ClinVar Miner

List of variants studied for Cardiomyopathy by GeneDx

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000432.4(MYL2):c.4-14del rs531661702 0.00105
NM_024422.6(DSC2):c.631-13dup rs551337657 0.00026
NC_000001.11:g.201369848_201369850delinsAA rs397516362
NM_000256.3(MYBPC3):c.1156_1171dup (p.Asp391delinsGlyThrGlyTer) rs730880689
NM_000256.3(MYBPC3):c.1358dup (p.Val454fs) rs727503203
NM_000256.3(MYBPC3):c.2311dup (p.Val771fs) rs397515960
NM_000256.3(MYBPC3):c.2382del (p.Pro795fs) rs730880714
NM_000256.3(MYBPC3):c.2534_2538del (p.Arg845fs) rs397515973
NM_000256.3(MYBPC3):c.2543del (p.Ala848fs) rs730880715
NM_000256.3(MYBPC3):c.2604del (p.Ser871fs) rs730880655
NM_000256.3(MYBPC3):c.2894_2905+4del rs730880717
NM_000256.3(MYBPC3):c.3182_3190+4del rs730880718
NM_000256.3(MYBPC3):c.3302_3303del (p.Thr1101fs) rs730880671
NM_000256.3(MYBPC3):c.3327del (p.Met1110fs) rs730880719
NM_000256.3(MYBPC3):c.3335_3337dup (p.Trp1112dup) rs730880673
NM_000256.3(MYBPC3):c.3472_3481del (p.Val1158fs) rs730880675
NM_000256.3(MYBPC3):c.3744_3758del (p.Gly1249_Cys1253del) rs730880676
NM_000256.3(MYBPC3):c.654+2_654+4dup rs730880682
NM_000256.3:c.3315delG rs1565623093
NM_000256.3:c.929insG
NM_000257.4(MYH7):c.5346GAA[2] (p.Lys1784del) rs730880935
NM_000363.5(TNNI3):c.12-7del rs370714315
NM_000371.4(TTR):c.337-14_337-11del rs112263266
NM_000432.4(MYL2):c.274+16_274+17insTC rs200007468
NM_000432.4(MYL2):c.274+9del rs730880939
NM_001018005.2(TPM1):c.712C>T (p.Arg238Trp) rs397516386
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup) rs397516593
NM_001276345.2(TNNT2):c.304_305insTTC (p.His101_Arg102insLeu) rs730881117
NM_001276345.2(TNNT2):c.53-12del rs730881094
NM_001276345.2(TNNT2):c.844dup (p.Gln282fs) rs730881119
NM_002667.5(PLN):c.63_64dup (p.Gln22fs) rs794729138
NM_004517.4(ILK):c.448+12del rs11314683
NM_005159.4:c.129+17insC
NM_005159.5(ACTC1):c.129+17del rs730880386
NM_006393.3(NEBL):c.72AGA[1] (p.Glu25del) rs794729080
NM_014391.3(ANKRD1):c.346-14_346-9del rs773314113
NM_014391.3(ANKRD1):c.346-15_346-14del rs794728971
NM_014391.3(ANKRD1):c.346-17_346-10del rs397517250
NM_014391.3(ANKRD1):c.346-19_346-18del rs398014415
NM_014391.3(ANKRD1):c.346-21ATTT[2] rs397517250
NM_032578.4(MYPN):c.3493+14del rs794729069
NM_032578.4(MYPN):c.3493+15_3493+20del rs11279655
NM_144573.4(NEXN):c.687+23del rs141957231

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