ClinVar Miner

List of variants in gene combination LOC130066960, TXNRD2 reported as uncertain significance for Primary dilated cardiomyopathy

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_006440.5(TXNRD2):c.77T>G (p.Val26Gly) rs925920723 0.00023
NM_006440.5(TXNRD2):c.46C>T (p.Arg16Trp) rs777650793 0.00001
NM_006440.5(TXNRD2):c.88G>T (p.Ala30Ser) rs1315091228 0.00001
NM_006440.5(TXNRD2):c.103G>C (p.Ala35Pro)
NM_006440.5(TXNRD2):c.42_47del (p.Phe15_Arg16del)
NM_006440.5(TXNRD2):c.47G>A (p.Arg16Gln)
NM_006440.5(TXNRD2):c.51G>C (p.Trp17Cys) rs2146120227
NM_006440.5(TXNRD2):c.52C>T (p.Arg18Trp) rs1060501404
NM_006440.5(TXNRD2):c.55A>G (p.Thr19Ala)
NM_006440.5(TXNRD2):c.56C>T (p.Thr19Met)
NM_006440.5(TXNRD2):c.58C>T (p.Gln20Ter)
NM_006440.5(TXNRD2):c.59A>T (p.Gln20Leu)
NM_006440.5(TXNRD2):c.64G>A (p.Val22Met) rs370819229
NM_006440.5(TXNRD2):c.64G>T (p.Val22Leu) rs370819229
NM_006440.5(TXNRD2):c.70_76dup (p.Val26fs)
NM_006440.5(TXNRD2):c.77T>C (p.Val26Ala) rs925920723
NM_006440.5(TXNRD2):c.77_83dup (p.Ala30fs) rs1162449700
NM_006440.5(TXNRD2):c.83G>T (p.Gly28Val)
NM_006440.5(TXNRD2):c.87_98del (p.27RGAA[1]) rs766448975
NM_006440.5(TXNRD2):c.87_98dup (p.27RGAA[3]) rs766448975
NM_006440.5(TXNRD2):c.90_101dup (p.27_30RGAA[3]) rs1008629337
NM_006440.5(TXNRD2):c.92G>C (p.Arg31Pro)

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