ClinVar Miner

List of variants in gene LOC130061795, TMC8 studied for immune system disorder

Included ClinVar conditions (908):
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Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_152468.5(TMC8):c.1501G>A (p.Val501Ile) rs11651675 0.02827
NM_152468.5(TMC8):c.1533+20G>C rs369240775 0.00039
NM_152468.5(TMC8):c.1513C>T (p.Leu505Phe) rs147922298 0.00016
NM_152468.5(TMC8):c.1533+17G>A rs370228757 0.00004
NM_152468.5(TMC8):c.1533+5C>T rs201383384 0.00003
NM_152468.5(TMC8):c.1533+8C>G rs375975035 0.00002
NM_152468.5(TMC8):c.1499G>A (p.Ser500Asn) rs754440009 0.00001
NM_152468.5(TMC8):c.1517C>T (p.Thr506Ile) rs780544042 0.00001
NM_152468.5(TMC8):c.1525A>G (p.Ile509Val) rs1002160081 0.00001
NM_152468.5(TMC8):c.1481del (p.Leu494fs)
NM_152468.5(TMC8):c.1482G>A (p.Leu494=)
NM_152468.5(TMC8):c.1488C>T (p.Pro496=) rs2145710951
NM_152468.5(TMC8):c.1500C>T (p.Ser500=)
NM_152468.5(TMC8):c.1521_1533+16del
NM_152468.5(TMC8):c.1527C>G (p.Ile509Met)
NM_152468.5(TMC8):c.1533+3G>A rs768734718
NM_152468.5(TMC8):c.1533+5C>G rs201383384

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