ClinVar Miner

List of variants reported as likely benign for acrofacial dysostosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001361.4(DHODH):c.-29A>G rs34270657 0.06520
NM_147127.5(EVC2):c.-19T>C rs188508515 0.00949
NM_001361.5(DHODH):c.*868A>G rs149599098 0.00547
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395 0.00286
NM_001361.5(DHODH):c.*139C>T rs140263128 0.00282
NM_001361.5(DHODH):c.294C>T (p.Asp98=) rs61747639 0.00227
NM_001361.5(DHODH):c.72C>T (p.Phe24=) rs61753576 0.00163
NM_001361.5(DHODH):c.765C>T (p.Ile255=) rs61757214 0.00128
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930 0.00093
NM_001361.5(DHODH):c.*1088T>C rs567852382 0.00063
NM_001361.5(DHODH):c.*252C>T rs147792232 0.00025
NM_022458.4(LMBR1):c.462T>G (p.Leu154=) rs765231166 0.00023
NM_001361.5(DHODH):c.*14C>T rs370049658 0.00016
NM_001361.5(DHODH):c.*1174T>G rs148338434 0.00006
NM_022458.4(LMBR1):c.52G>T (p.Val18Leu) rs147215221 0.00006
NM_022458.4(LMBR1):c.204C>T (p.Leu68=) rs766669976 0.00004
NM_022458.4(LMBR1):c.1083C>T (p.Ser361=) rs757854346 0.00001
NM_022458.4(LMBR1):c.1233T>C (p.Thr411=) rs376730383
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826

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