ClinVar Miner

List of variants in gene OTOGL studied for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
GRCh37/hg19 12q21.31(chr12:80696112-80696398)x1
NM_001378609.3(OTOGL):c.1892C>A (p.Ser631Tyr)
NM_001378609.3(OTOGL):c.2854G>A (p.Gly952Arg)
NM_001378609.3(OTOGL):c.3626A>G (p.Tyr1209Cys)
NM_001378609.3(OTOGL):c.3931C>T (p.His1311Tyr)
NM_001378609.3(OTOGL):c.4536_4537del (p.Cys1512fs) rs763898293
NM_001378609.3(OTOGL):c.4544G>A (p.Arg1515Gln)
NM_001378609.3(OTOGL):c.890T>G (p.Val297Gly)
NM_173591.3(OTOGL):c.1368-3T>C rs374833540
NM_173591.3(OTOGL):c.1430del (p.Val477fs) rs1233562246
NM_173591.3(OTOGL):c.1558C>T (p.Gln520Ter) rs371465450
NM_173591.3(OTOGL):c.2537C>T (p.Pro846Leu) rs183159689
NM_173591.3(OTOGL):c.3250A>C (p.Asn1084His) rs867315415
NM_173591.3(OTOGL):c.3461A>G (p.Asp1154Gly) rs202085918
NM_173591.3(OTOGL):c.3539A>G (p.Gln1180Arg) rs200392453
NM_173591.3(OTOGL):c.4204A>T (p.Asn1402Tyr) rs770438244
NM_173591.3(OTOGL):c.4207A>G (p.Met1403Val) rs774172292
NM_173591.3(OTOGL):c.448C>T (p.Arg150Trp) rs191608225
NM_173591.3(OTOGL):c.5000C>G (p.Ser1667Ter) rs1477766714
NM_173591.3(OTOGL):c.5238+5G>A rs902734999
NM_173591.3(OTOGL):c.547C>T (p.Arg183Ter) rs397514588
NM_173591.3(OTOGL):c.6095-1G>A rs952235302
Single allele

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