ClinVar Miner

List of variants in gene OTOGL studied for Rare genetic deafness

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001378609.3(OTOGL):c.1078C>T (p.Arg360Ter) rs368844341 0.00016
NM_001378609.3(OTOGL):c.1940G>A (p.Trp647Ter) rs377708973 0.00009
NM_001378609.3(OTOGL):c.975del (p.Leu325fs) rs766753922 0.00005
NM_001378609.3(OTOGL):c.4082-1G>C rs756233978 0.00002
NM_001378609.3(OTOGL):c.4601-2A>G rs368266167 0.00002
NM_001378609.3(OTOGL):c.39G>A (p.Trp13Ter) rs1191512072 0.00001
NM_001378609.3(OTOGL):c.4341del (p.Met1447fs) rs766971906 0.00001
NM_001378609.3(OTOGL):c.5014C>T (p.Arg1672Ter) rs759174628 0.00001
NC_000012.11:g.80632665_80732812del
NM_001378609.3(OTOGL):c.119+1G>A
NM_001378609.3(OTOGL):c.1567C>T (p.Gln523Ter)
NM_001378609.3(OTOGL):c.2365_2372del (p.Glu788_Asp789insTer)
NM_001378609.3(OTOGL):c.3081dup (p.Leu1028fs) rs764178233
NM_001378609.3(OTOGL):c.3168G>A (p.Trp1056Ter) rs2137737853
NM_001378609.3(OTOGL):c.3521_3524del (p.Glu1174fs)
NM_001378609.3(OTOGL):c.4199+1G>A
NM_001378609.3(OTOGL):c.4741C>T (p.Gln1581Ter)
NM_001378609.3(OTOGL):c.5020_5024del (p.Asn1674fs) rs1592726662
NM_001378609.3(OTOGL):c.5341del (p.Ser1781fs) rs772723774
NM_001378609.3(OTOGL):c.841_842del (p.Met281fs) rs876657658
NM_173591.3(OTOGL):c.(?_2657)_(4690_?)del
NM_173591.3(OTOGL):c.(?_6305)-71_*(79_?)del

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