Total 43 pathogenic variants reported for Persistent mullerian duct syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000479.5(AMH):c.1144G>T (p.Glu382Ter) SNV
Germline		 Chr19:2251418 Pathogenic Persistent mullerian duct syndrome, type I No Assertion Criteria Provided
 CA119784 rs_267606654

1 SubmittersRCV000009153
NM_000479.5(AMH):c.571C>T (p.Arg191Ter) SNV
Germline		 Chr19:2250667 Pathogenic Persistent mullerian duct syndrome, type I
Persistent Mullerian duct syndrome		 Criteria Provided
Single Submitter
 CA119786 rs_104894666

2 SubmittersRCV000009156RCV004799735
NM_020547.3(AMHR2):c.232+1G>A SNV
Germline		 Chr12:53424471 Pathogenic Persistent mullerian duct syndrome, type II No Assertion Criteria Provided
 CA6600259 rs_763798144

1 SubmittersRCV000009158
NM_020547.3(AMHR2):c.1217G>A (p.Arg406Gln) SNV
Germline		 Chr12:53429907 Likely pathogenic Persistent mullerian duct syndrome, type II
Condition: not provided		 Criteria Provided
Single Submitter
 CA119789 rs_137853104

2 SubmittersRCV000009161RCV002512932
NM_020547.3(AMHR2):c.1387C>T (p.Arg463Cys) SNV
Germline		 Chr12:53430244 Pathogenic/Likely pathogenic Condition: not provided
AMHR2-related disorder
Persistent Mullerian duct syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6600597 rs_374247138

4 SubmittersRCV000413691RCV003418097RCV006458330
NM_020547.3(AMHR2):c.994C>T (p.Arg332Ter) SNV
Unknown		 Chr12:53429479 Pathogenic Male pseudohermaphroditism
Persistent Mullerian duct syndrome		 Criteria Provided
Single Submitter
 CA6600497 rs_781745214

2 SubmittersRCV000850306RCV001785743
NM_000479.5(AMH):c.563G>A (p.Cys188Tyr) SNV
Unknown		 Chr19:2250659 Pathogenic Persistent Mullerian duct syndrome No Assertion Criteria Provided
 CA403240249 rs_2025018868

1 SubmittersRCV001268948
NM_000479.5(AMH):c.864C>G (p.Asp288Glu) SNV
Germline		 Chr19:2251138 Conflicting classifications of pathogenicity Condition: not provided
Persistent Mullerian duct syndrome		 Criteria Provided
Conflicting Classifications
 CA9063004 rs_199831511

3 SubmittersRCV001443521RCV003136078
NM_020547.3(AMHR2):c.775C>T (p.Arg259Ter) SNV
Unknown		 Chr12:53425842 Pathogenic Genetic non-acquired premature ovarian failure
Persistent Mullerian duct syndrome		 Criteria Provided
Single Submitter
 CA6600440 rs_746905091

2 SubmittersRCV001661764RCV005232643
NM_020547.3(AMHR2):c.64C>T (p.Arg22Ter) SNV
Germline		 Chr12:53424302 Pathogenic/Likely pathogenic Condition: not provided
Persistent Mullerian duct syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6600220 rs_755196112

2 SubmittersRCV001822809RCV005006079
NM_000479.5(AMH):c.649C>T (p.Gln217Ter) SNV
Germline		 Chr19:2250745 Pathogenic Persistent Mullerian duct syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA403240594 rs_1183532981

2 SubmittersRCV001848599
NM_020547.3(AMHR2):c.238C>T (p.Arg80Ter) SNV
Germline		 Chr12:53424714 Pathogenic Persistent Mullerian duct syndrome Criteria Provided
Single Submitter
 CA6600291 rs_376565347

1 SubmittersRCV002283638
NM_020547.3(AMHR2):c.1340C>T (p.Thr447Ile) SNV
Germline		 Chr12:53430197 Pathogenic Persistent Mullerian duct syndrome Criteria Provided
Single Submitter
 CA385095958 rs_2498922382

1 SubmittersRCV002286517
NM_000479.5(AMH):c.1165G>T (p.Glu389Ter) SNV
Germline		 Chr19:2251439 Pathogenic/Likely pathogenic Persistent Mullerian duct syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA403242262 rs_1415701260

2 SubmittersRCV002471338
NM_020547.3(AMHR2):c.1510C>T (p.Arg504Cys) SNV
Germline		 Chr12:53431261 Pathogenic Persistent Mullerian duct syndrome Criteria Provided
Single Submitter
 CA6600636 rs_772294564

1 SubmittersRCV003331639
NM_020547.3(AMHR2):c.1412G>A (p.Arg471His) SNV
Germline		 Chr12:53430269 Pathogenic/Likely pathogenic Condition: not provided
Persistent Mullerian duct syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6600601 rs_767904039

2 SubmittersRCV003724230RCV005407227
NM_000479.5(AMH):c.1683A>T (p.Ter561Cys) SNV
Germline		 Chr19:2251957 Likely pathogenic Persistent Mullerian duct syndrome Criteria Provided
Single Submitter
 CA403243908 rs_2512014671

1 SubmittersRCV003990543
NM_020547.3(AMHR2):c.514C>T (p.Arg172Ter) SNV
Germline		 Chr12:53425466 Pathogenic/Likely pathogenic Persistent Mullerian duct syndrome Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004691663
NM_020547.3(AMHR2):c.160C>T (p.Arg54Cys) SNV
Germline		 Chr12:53424398 Likely pathogenic Persistent Mullerian duct syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004766503
NM_000479.5(AMH):c.118C>T (p.Arg40Ter) SNV
Germline		 Chr19:2249450 Pathogenic/Likely pathogenic Persistent Mullerian duct syndrome
Differences in sex development		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005026442RCV005865730
NM_000479.5(AMH):c.301G>A (p.Gly101Arg) SNV
Germline		 Chr19:2249633 Likely pathogenic Persistent Mullerian duct syndrome
Differences in sex development		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005026444RCV005865731
NM_020547.3(AMHR2):c.229C>T (p.Gln77Ter) SNV
Germline		 Chr12:53424467 Likely pathogenic Persistent Mullerian duct syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005011406
NM_020547.3(AMHR2):c.289C>T (p.Arg97Ter) SNV
Germline		 Chr12:53424765 Pathogenic Persistent Mullerian duct syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005011407
NM_000479.5(AMH):c.451C>T (p.Pro151Ser) SNV
Germline		 Chr19:2250375 Pathogenic Condition: not provided
Persistent Mullerian duct syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005143980RCV006454603
NM_020547.3(AMHR2):c.1219C>T (p.Arg407Ter) SNV
Germline		 Chr12:53429909 Pathogenic Persistent Mullerian duct syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005360302
NM_020547.3(AMHR2):c.622-1G>A SNV
Germline		 Chr12:53425688 Likely pathogenic Persistent Mullerian duct syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005396359
NM_000479.5(AMH):c.1430T>C (p.Val477Ala) SNV
Germline		 Chr19:2251704 Likely pathogenic Persistent Mullerian duct syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005409555
NM_000479.5(AMH):c.992C>T (p.Ser331Leu) SNV
Germline		 Chr19:2251266 Likely pathogenic Persistent Mullerian duct syndrome No Assertion Criteria Provided

1 SubmittersRCV006272217