ClinVar Miner

List of variants in gene OTOF reported as likely benign for autosomal recessive nonsyndromic hearing loss 9

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_194248.3(OTOF):c.945G>A (p.Lys315=) rs41288779 0.07420
NM_194248.3(OTOF):c.5655C>T (p.Arg1885=) rs45442103 0.04640
NM_194248.3(OTOF):c.2829C>T (p.Gly943=) rs73920285 0.03958
NM_194248.3(OTOF):c.4677G>A (p.Val1559=) rs2272071 0.03875
NM_194248.3(OTOF):c.2703G>A (p.Ser901=) rs4997760 0.03814
NM_194248.3(OTOF):c.*372C>T rs56025829 0.03793
NM_194248.3(OTOF):c.509+10A>G rs76712142 0.03772
NM_194248.3(OTOF):c.2402A>T (p.Glu801Val) rs61739883 0.03615
NM_194248.3(OTOF):c.2401G>T (p.Glu801Ter) rs75624587 0.03607
NM_194248.3(OTOF):c.2613C>T (p.Leu871=) rs2272068 0.03343
NM_194248.3(OTOF):c.*650C>A rs57941637 0.03295
NM_194248.3(OTOF):c.2022C>T (p.Asp674=) rs13004993 0.03023
NM_194248.3(OTOF):c.1926C>T (p.Asn642=) rs72853741 0.02727
NM_194248.3(OTOF):c.-120G>T rs114469860 0.02362
NM_194248.3(OTOF):c.3608A>G (p.Asn1203Ser) rs61740776 0.01706
NM_194248.3(OTOF):c.-67G>A rs13422586 0.01603
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly) rs41288773 0.01560
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys) rs80356569 0.01549
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=) rs80356578 0.01544
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_194248.3(OTOF):c.4629-9C>T rs72853726 0.01237
NM_194248.3(OTOF):c.2025G>A (p.Glu675=) rs61746988 0.00801
NM_194248.3(OTOF):c.145C>T (p.Arg49Trp) rs61746568 0.00630
NM_194248.3(OTOF):c.1185C>T (p.Thr395=) rs61739877 0.00596
NM_194248.3(OTOF):c.*220C>T rs72853716 0.00356
NM_194248.3(OTOF):c.2381G>A (p.Arg794His) rs80356592 0.00122
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys) rs140613217 0.00081
NM_194248.3(OTOF):c.2452C>T (p.Arg818Trp) rs2272070 0.00006

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