ClinVar Miner

List of variants reported as uncertain significance 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: 12
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HGVS dbSNP gnomAD frequency
NM_001218.5(CA12):c.908-1G>A rs148438059 0.00043
NM_206933.4(USH2A):c.7616C>T (p.Pro2539Leu) rs147333637 0.00006
NM_144672.4(OTOA):c.3188C>G (p.Pro1063Arg) rs1377749598 0.00003
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp) rs554073390 0.00002
NM_001145809.2(MYH14):c.2893G>A (p.Glu965Lys) rs773353115 0.00002
NM_206933.4(USH2A):c.11464T>C (p.Ser3822Pro) rs201961789 0.00002
NM_000260.4(MYO7A):c.4313C>T (p.Ala1438Val) rs538178875
NM_000372.5(TYR):c.164G>C (p.Cys55Ser) rs28940879
NM_001218.5(CA12):c.863_864insACCT (p.Phe289fs) rs2039037448
NM_001379180.1(ESRRB):c.796G>C (p.Asp266His) rs1595163029
NM_138691.3(TMC1):c.596A>T (p.Asn199Ile) rs756960425
NM_194248.3(OTOF):c.2962TTC[1] (p.Phe989del) rs1423777622

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