ClinVar Miner

List of variants in gene TMC1 reported by GeneDx

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Total variants: 19
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HGVS dbSNP
GRCh37/hg19 9q21.13(chr9:75161655-75429310)x1
NM_138691.2(TMC1):c.100C>T (p.Arg34Ter) rs121908073
NM_138691.2(TMC1):c.1236del (p.Met413fs) rs876657727
NM_138691.2(TMC1):c.135C>A (p.Thr45=) rs111353632
NM_138691.2(TMC1):c.1449A>C (p.Glu483Asp) rs1554728060
NM_138691.2(TMC1):c.1457T>C (p.Met486Thr) rs17058153
NM_138691.2(TMC1):c.1534C>T (p.Arg512Ter) rs200171616
NM_138691.2(TMC1):c.16+94T>G
NM_138691.2(TMC1):c.1713C>T (p.Phe571=) rs34532421
NM_138691.2(TMC1):c.1763+3A>G rs370898981
NM_138691.2(TMC1):c.2004-46C>T
NM_138691.2(TMC1):c.2130-1del rs1554731002
NM_138691.2(TMC1):c.238_240GAA[3] (p.Glu83del) rs376040866
NM_138691.2(TMC1):c.241G>A (p.Glu81Lys) rs1796993
NM_138691.2(TMC1):c.373A>C (p.Lys125Gln) rs377607548
NM_138691.2(TMC1):c.421C>T (p.Arg141Trp) rs11143384
NM_138691.2(TMC1):c.45C>T (p.Asp15=) rs2589615
NM_138691.2(TMC1):c.582G>A (p.Trp194Ter) rs1172357346
NM_138691.2(TMC1):c.795A>C (p.Thr265=) rs140398130

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