ClinVar Miner

List of variants reported as pathogenic for autosomal recessive disease by Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_016366.3(CABP2):c.637+1G>T rs149712664 0.00102
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) rs397516874 0.00008
NM_138691.3(TMC1):c.236+1G>A rs775428246 0.00003
NM_001031679.3(MSRB3):c.391-1G>A rs751906778 0.00001
NM_001378454.1(ALMS1):c.11113_11131del (p.Arg3705fs) rs398122992 0.00001
NC_000016.9:g.(21575218_21624036)_(21747738_21777910)del
NM_000163.5(GHR):c.267-2A>G rs1757597156
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs) rs746427774
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000784.3(CYP27A1):c.[446+1G>T];[808C>T]
NM_001378454.1(ALMS1):c.1791_1798dup (p.Lys600delinsArgLeuTer) rs398122991
NM_001378454.1(ALMS1):c.1897C>T (p.Gln633Ter) rs398122995
NM_001378454.1(ALMS1):c.4293_4296del (p.His1431fs) rs398122993
NM_001378454.1(ALMS1):c.5923del (p.Glu1975fs) rs398122994
NM_002906.4(RDX):c.551+2T>C rs1591158999
NM_013335.4(GMPPA):c.853+1G>A rs1553624347
NM_194248.3(OTOF):c.2443del (p.Gln815fs) rs1558485249
NM_194248.3(OTOF):c.4362+1G>C rs1274464930

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