Total 21 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 No Assertion Criteria Provided
 CA119786 rs_104894666

1 SubmittersRCV000009156
NM_020547.3(AMHR2):c.232+1G>A SNV
Germline		 Chr12:53424471 Pathogenic Persistent mullerian duct syndrome, type II No Assertion Criteria Provided
 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.994C>T (p.Arg332Ter) SNV
Unknown		 Chr12:53429479 Pathogenic Male pseudohermaphroditism
Persistent Mullerian duct syndrome		 Criteria Provided
Single Submitter
 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
 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
 rs_199831511

3 SubmittersRCV001443521RCV003136078
NM_020547.3(AMHR2):c.1483C>T (p.Arg495Trp) SNV
Germline		 Chr12:53431234 Likely pathogenic Persistent Mullerian duct syndrome No Assertion Criteria Provided
 rs_749715622

1 SubmittersRCV003446812
NM_000479.5(AMH):c.649C>T (p.Gln217Ter) SNV
Unknown		 Chr19:2250745 Pathogenic Persistent Mullerian duct syndrome Criteria Provided
Single Submitter
 rs_1183532981

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

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

1 SubmittersRCV002286517
NM_000479.5(AMH):c.1165G>T (p.Glu389Ter) SNV
Germline		 Chr19:2251439 Pathogenic Persistent Mullerian duct syndrome Criteria Provided
Single Submitter

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

1 SubmittersRCV003331639
NM_000479.5(AMH):c.1683A>T (p.Ter561Cys) SNV
Germline		 Chr19:2251957 Likely pathogenic Persistent Mullerian duct syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003990543