ClinVar Miner

List of variants studied for Focal segmental glomerulosclerosis 2 by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_004621.6(TRPC6):c.218G>A (p.Arg73His) rs371919016 0.00022
NM_004621.6(TRPC6):c.428A>G (p.Asn143Ser) rs121434391 0.00018
NM_004621.6(TRPC6):c.5G>C (p.Ser2Thr) rs886039885 0.00009
NM_004621.6(TRPC6):c.304T>A (p.Phe102Ile) rs201363468 0.00003
NM_004621.6(TRPC6):c.673C>G (p.Leu225Val) rs201368333 0.00003
NM_004621.6(TRPC6):c.364C>T (p.His122Tyr) rs774329493 0.00001
NM_004621.6(TRPC6):c.524G>A (p.Arg175Gln) rs1451194842 0.00001
NM_004621.6(TRPC6):c.769G>A (p.Asp257Asn) rs1565221149 0.00001
NM_004621.6(TRPC6):c.1747A>G (p.Arg583Gly) rs200107149
NM_004621.6(TRPC6):c.2678G>T (p.Ser893Ile) rs1591517921
NM_004621.6(TRPC6):c.518A>G (p.Tyr173Cys) rs1555003819
NM_004621.6(TRPC6):c.643C>G (p.Arg215Gly) rs768210838

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