ClinVar Miner

List of variants in gene OTOGL reported as uncertain significance for Autosomal recessive nonsyndromic hearing loss 84B

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly) rs202085918 0.00195
NM_001378609.3(OTOGL):c.475C>T (p.Arg159Trp) rs191608225 0.00041
NM_001378609.3(OTOGL):c.1395-3T>C rs374833540 0.00038
NM_001378609.3(OTOGL):c.3566A>G (p.Gln1189Arg) rs200392453 0.00029
NM_001378609.3(OTOGL):c.6864A>G (p.Ile2288Met) rs145876584 0.00029
NM_001378609.3(OTOGL):c.34C>A (p.Pro12Thr) rs539100194 0.00015
NM_001378609.3(OTOGL):c.5350G>A (p.Val1784Met) rs571909899 0.00015
NM_001378609.3(OTOGL):c.236-2A>G rs766564988 0.00009
NM_001378609.3(OTOGL):c.2945A>C (p.Asp982Ala) rs774797627 0.00006
NM_001378609.3(OTOGL):c.3434C>T (p.Ala1145Val) rs374368341 0.00006
NM_001378609.3(OTOGL):c.4234A>G (p.Met1412Val) rs774172292 0.00002
NM_001378609.3(OTOGL):c.5050G>A (p.Gly1684Arg) rs778223464 0.00002
NM_001378609.3(OTOGL):c.3277A>C (p.Asn1093His) rs867315415 0.00001
NM_001378609.3(OTOGL):c.3931C>T (p.His1311Tyr) rs1230531336 0.00001
NM_001378609.3(OTOGL):c.4231A>T (p.Asn1411Tyr) rs770438244 0.00001
NM_001378609.3(OTOGL):c.1694A>G (p.Gln565Arg)
NM_001378609.3(OTOGL):c.3626A>G (p.Tyr1209Cys) rs1886838397
NM_001378609.3(OTOGL):c.4199+1G>A
NM_001378609.3(OTOGL):c.4741C>T (p.Gln1581Ter)
NM_001378609.3(OTOGL):c.6161G>A (p.Cys2054Tyr) rs962629988
NM_001378609.3(OTOGL):c.6235T>C (p.Cys2079Arg)
NM_001378609.3(OTOGL):c.6949T>C (p.Cys2317Arg) rs1197672891

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