Total 19 pathogenic variants reported for Miller syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001361.5(DHODH):c.1036C>T (p.Arg346Trp)	SNV Germline	Chr16:72023536	Likely pathogenic	Miller syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA126896	rs_201947120	3 SubmittersRCV000018291 RCV002225267
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys)	SNV Germline	Chr16:72014641	Pathogenic/Likely pathogenic	Condition: not provided Miller syndrome	Criteria Provided Multiple Submitters No Conflicts	CA126897	rs_201230446	7 SubmittersRCV000316778 RCV000018292
NM_001361.5(DHODH):c.605G>C (p.Gly202Ala)	SNV Germline	Chr16:72021211	Pathogenic	Miller syndrome	No Assertion Criteria Provided	CA126900	rs_267606767	1 SubmittersRCV000018295
NM_001361.5(DHODH):c.605G>A (p.Gly202Asp)	SNV Germline	Chr16:72021211	Pathogenic	Miller syndrome	No Assertion Criteria Provided	CA126901	rs_267606767	1 SubmittersRCV000018296
NM_001361.5(DHODH):c.730C>T (p.Arg244Trp)	SNV Germline	Chr16:72022386	Pathogenic	Miller syndrome	No Assertion Criteria Provided	CA126902	rs_267606768	1 SubmittersRCV000018297
NM_001361.5(DHODH):c.595C>T (p.Arg199Cys)	SNV Germline	Chr16:72021201	Pathogenic	Miller syndrome	No Assertion Criteria Provided	CA126903	rs_267606769	1 SubmittersRCV000018299
NM_001361.5(DHODH):c.22-11C>T	SNV Germline	Chr16:72012039	Conflicting classifications of pathogenicity	Miller syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8158497	rs_770515591	2 SubmittersRCV000376200 RCV003765857
NM_001361.5(DHODH):c.753C>A (p.Val251=)	SNV Germline	Chr16:72022409	Conflicting classifications of pathogenicity	Miller syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8158752	rs_373893426	2 SubmittersRCV000359291 RCV000977892
NM_001361.5(DHODH):c.682G>A (p.Glu228Lys)	SNV Germline	Chr16:72021288	Conflicting classifications of pathogenicity	Miller syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8158722	rs_201202896	3 SubmittersRCV000304566 RCV003556330
NM_001361.5(DHODH):c.949C>T (p.Arg317Trp)	SNV Germline	Chr16:72023294	Conflicting classifications of pathogenicity	Miller syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8158807	rs_192923495	3 SubmittersRCV000331720 RCV001351702
NM_001361.5(DHODH):c.570C>T (p.Ala190=)	SNV Germline	Chr16:72021176	Conflicting classifications of pathogenicity	Miller syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8158694	rs_149123373	2 SubmittersRCV000348001 RCV002521065
NM_001361.5(DHODH):c.804C>T (p.Ala268=)	SNV Germline	Chr16:72022460	Conflicting classifications of pathogenicity	Miller syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8158761	rs_374538940	3 SubmittersRCV000264574 RCV000996306
NM_001361.5(DHODH):c.1020C>T (p.Asp340=)	SNV Germline	Chr16:72023520	Conflicting classifications of pathogenicity	Condition: not provided Miller syndrome DHODH-related disorder	Criteria Provided Conflicting Classifications		rs_199666119	3 SubmittersRCV000948440 RCV001115644 RCV003960595
NM_001361.5(DHODH):c.73G>A (p.Ala25Thr)	SNV Germline	Chr16:72012101	Conflicting classifications of pathogenicity	Miller syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200549060	3 SubmittersRCV001115552 RCV003235471 RCV003163268
NM_001361.5(DHODH):c.983C>T (p.Pro328Leu)	SNV Germline	Chr16:72023483	Conflicting classifications of pathogenicity	Miller syndrome Condition: not provided DHODH-related disorder	Criteria Provided Conflicting Classifications		rs_79673084	4 SubmittersRCV001115643 RCV001593277 RCV003906214
NM_001361.5(DHODH):c.518-11G>A	SNV Germline	Chr16:72021113	Conflicting classifications of pathogenicity	Miller syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_201023112	2 SubmittersRCV001116982 RCV002556479
NM_001361.5(DHODH):c.952G>T (p.Glu318Ter)	SNV Germline	Chr16:72023297	Likely pathogenic	Miller syndrome	Criteria Provided Single Submitter		rs_1288171226	1 SubmittersRCV001733572