ClinVar Miner

List of variants studied for Primary dilated cardiomyopathy by Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.101708G>A (p.Arg33903His) rs72629782 0.00017
NM_032578.4(MYPN):c.3934C>T (p.Arg1312Trp) rs142354704 0.00012
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp) rs397517500 0.00011
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318 0.00006
NM_032578.4(MYPN):c.2540G>T (p.Gly847Val) rs181848049 0.00006
NM_032578.4(MYPN):c.3886T>A (p.Ser1296Thr) rs199585352 0.00006
NM_201384.3(PLEC):c.1123G>A (p.Val375Met) rs199866423 0.00006
NM_201384.3(PLEC):c.9424G>A (p.Gly3142Ser) rs373523333 0.00005
NM_000256.3(MYBPC3):c.1091C>T (p.Ala364Val) rs778161908 0.00004
NM_017780.4(CHD7):c.4516G>A (p.Gly1506Ser) rs750258756 0.00004
NM_024422.6(DSC2):c.394C>T (p.Arg132Cys) rs727504578 0.00002
NM_000256.3(MYBPC3):c.1433C>T (p.Ser478Leu) rs730880540 0.00001
NM_000426.4(LAMA2):c.470C>G (p.Ser157Cys) rs756699354 0.00001
NM_001276345.2(TNNT2):c.452G>A (p.Arg151Gln) rs730881101 0.00001
NM_001927.4(DES):c.286G>T (p.Ala96Ser) rs201190593 0.00001
NM_004333.6(BRAF):c.1690A>G (p.Met564Val) rs745783052 0.00001
NM_005751.5(AKAP9):c.3448C>T (p.Leu1150Phe) rs750350575 0.00001
NM_000088.4(COL1A1):c.4339G>T (p.Val1447Phe)
NM_000138.5(FBN1):c.657C>G (p.His219Gln)
NM_000256.3(MYBPC3):c.742G>T (p.Asp248Tyr)
NM_000335.5(SCN5A):c.1300T>A (p.Phe434Ile)
NM_001018005.2(TPM1):c.725C>T (p.Ala242Val) rs397516387
NM_001079843.3(CASZ1):c.559G>A (p.Gly187Ser)
NM_001146156.2(GSK3B):c.910-2987C>T
NM_001267550.2(TTN):c.4136T>C (p.Leu1379Ser)
NM_001267550.2(TTN):c.46216G>A (p.Asp15406Asn)
NM_001267550.2(TTN):c.5327C>A (p.Thr1776Asn)
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) rs200540781
NM_001267550.2(TTN):c.98054A>G (p.Glu32685Gly)
NM_001276345.2(TNNT2):c.808G>A (p.Glu270Lys) rs1131691898
NM_001386795.1(DTNA):c.1265del (p.Ser422fs)
NM_001792.5(CDH2):c.1762A>G (p.Thr588Ala)
NM_001999.4(FBN2):c.2679C>G (p.Ser893Arg) rs778473524
NM_002471.4(MYH6):c.1334A>G (p.Asn445Ser)
NM_002471.4(MYH6):c.4231G>A (p.Ala1411Thr)
NM_004006.3(DMD):c.10034G>A (p.Arg3345Gln)
NM_004281.4(BAG3):c.653G>T (p.Arg218Leu)
NM_005257.6(GATA6):c.701del (p.Pro234fs)
NM_006767.4(LZTR1):c.385A>G (p.Ser129Gly)
NM_014423.4(AFF4):c.2324G>C (p.Arg775Pro)
NM_015978.3(TNNI3K):c.736G>C (p.Gly246Arg)
NM_017636.4(TRPM4):c.337C>T (p.Arg113Cys)
NM_020433.5(JPH2):c.479G>A (p.Arg160His)
NM_020433.5(JPH2):c.598T>G (p.Phe200Val)
NM_024422.6(DSC2):c.448G>A (p.Gly150Ser)
NM_152879.3(DGKD):c.541C>T (p.Arg181Cys)

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