ClinVar Miner

List of variants in gene TRPC6 reported as likely pathogenic by Gharavi Laboratory, Columbia University

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004621.6(TRPC6):c.2534T>G (p.Leu845Arg) rs1165923760 0.00004
NM_004621.6(TRPC6):c.643C>T (p.Arg215Trp) rs768210838 0.00001
NM_004621.6(TRPC6):c.2284G>A (p.Val762Ile) rs1565206758
NM_004621.6(TRPC6):c.266G>T (p.Ser89Ile) rs1565221699
NM_004621.6(TRPC6):c.434A>G (p.His145Arg) rs1565221486

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