ClinVar Miner

List of variants in gene LOC130061793, TMC6, TMC8 studied for immune system disorder

Included ClinVar conditions (908):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_152468.5(TMC8):c.299-14C>T rs200278176 0.00023
NM_152468.5(TMC8):c.340C>A (p.Arg114Ser) rs769970838 0.00002
NM_152468.5(TMC8):c.307G>C (p.Gly103Arg) rs755470929 0.00001
NM_152468.5(TMC8):c.312A>G (p.Thr104=)
NM_152468.5(TMC8):c.316del (p.Ile106fs)
NM_152468.5(TMC8):c.319C>T (p.Arg107Trp) rs1248372306
NM_152468.5(TMC8):c.320G>A (p.Arg107Gln) rs759253214
NM_152468.5(TMC8):c.326A>T (p.Tyr109Phe)
NM_152468.5(TMC8):c.341G>A (p.Arg114His)
NM_152468.5(TMC8):c.360C>T (p.Asn120=)

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