ClinVar Miner

List of variants in gene TMC1 reported as pathogenic for auditory system disorder

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_138691.3(TMC1):c.1763+3A>G rs370898981 0.00056
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter) rs121908073 0.00006
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_138691.3(TMC1):c.236+1G>A rs775428246 0.00003
NM_138691.3(TMC1):c.1939T>C (p.Ser647Pro) rs138527651 0.00002
NM_138691.3(TMC1):c.1960A>G (p.Met654Val) rs121908074 0.00002
NM_138691.3(TMC1):c.821C>T (p.Pro274Leu) rs755694066 0.00002
NM_138691.3(TMC1):c.352G>T (p.Glu118Ter) rs1439351996 0.00001
NM_138691.3(TMC1):c.797T>C (p.Ile266Thr) rs747645756 0.00001
NM_138691.2(TMC1):c.[1165C>T];[1939T>C]
NM_138691.2(TMC1):c.[1210T>C];[1939T>C]
NM_138691.2(TMC1):c.[1810C>T];[1939T>C]
NM_138691.2(TMC1):c.[1810C>T];[674C>T]
NM_138691.3(TMC1):c.1143C>G (p.Tyr381Ter) rs757327146
NM_138691.3(TMC1):c.1184del (p.Gln395fs) rs2118181420
NM_138691.3(TMC1):c.1220dup (p.Asn407fs) rs1564555185
NM_138691.3(TMC1):c.1250G>A (p.Gly417Glu)
NM_138691.3(TMC1):c.1253T>A (p.Met418Lys) rs786201027
NM_138691.3(TMC1):c.1259G>A (p.Cys420Tyr) rs1564556995
NM_138691.3(TMC1):c.150del (p.Asn50fs) rs2132189585
NM_138691.3(TMC1):c.1532C>T (p.Pro511Leu) rs727503483
NM_138691.3(TMC1):c.1543T>C (p.Cys515Arg) rs121908076
NM_138691.3(TMC1):c.15dup (p.Val6fs) rs878853229
NM_138691.3(TMC1):c.16+1G>T rs1169090943
NM_138691.3(TMC1):c.1627G>A (p.Asp543Asn)
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_138691.3(TMC1):c.1714G>C (p.Asp572His) rs121908072
NM_138691.3(TMC1):c.2218G>T (p.Glu740Ter) rs1564583413
NM_138691.3(TMC1):c.229del (p.Arg77fs) rs878853230
NM_138691.3(TMC1):c.871del (p.Val291fs)
NM_138691.3(TMC1):c.885-2A>C rs1564554148

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