ClinVar Miner

List of variants in gene combination COMT, TXNRD2 reported as uncertain significance for Primary dilated cardiomyopathy

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_006440.5(TXNRD2):c.2T>C (p.Met1Thr) rs749057584 0.00016
NC_000022.10:g.(?_19862041)_(19930515_?)dup
NC_000022.10:g.(?_19929214)_(19929336_?)dup
NC_000022.11:g.(?_19877095)_(19941813_?)del
NM_006440.5(TXNRD2):c.11T>C (p.Met4Thr) rs1429174414
NM_006440.5(TXNRD2):c.14C>G (p.Ala5Gly)
NM_006440.5(TXNRD2):c.14C>T (p.Ala5Val) rs775392322
NM_006440.5(TXNRD2):c.1A>G (p.Met1Val)
NM_006440.5(TXNRD2):c.20C>G (p.Ala7Gly)
NM_006440.5(TXNRD2):c.26G>C (p.Arg9Pro)
NM_006440.5(TXNRD2):c.29G>C (p.Gly10Ala) rs1159919237
NM_006440.5(TXNRD2):c.8C>T (p.Ala3Val)

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