ClinVar Miner

List of variants reported as uncertain significance 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: 39
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.101708G>A (p.Arg33903His) rs72629782 0.00019
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_032578.4(MYPN):c.3886T>A (p.Ser1296Thr) rs199585352 0.00007
NM_201384.3(PLEC):c.1123G>A (p.Val375Met) rs199866423 0.00007
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_152879.3(DGKD):c.541C>T (p.Arg181Cys) rs578036955 0.00006
NM_017780.4(CHD7):c.4516G>A (p.Gly1506Ser) rs750258756 0.00005
NM_201384.3(PLEC):c.9424G>A (p.Gly3142Ser) rs373523333 0.00005
NM_006767.4(LZTR1):c.385A>G (p.Ser129Gly) rs200390894 0.00003
NM_001267550.2(TTN):c.98054A>G (p.Glu32685Gly) rs762387276 0.00002
NM_002471.4(MYH6):c.4231G>A (p.Ala1411Thr) rs146172839 0.00002
NM_024422.6(DSC2):c.394C>T (p.Arg132Cys) rs727504578 0.00002
NM_000256.3(MYBPC3):c.1091C>T (p.Ala364Val) rs778161908 0.00001
NM_000256.3(MYBPC3):c.1433C>T (p.Ser478Leu) rs730880540 0.00001
NM_000256.3(MYBPC3):c.742G>T (p.Asp248Tyr) rs768625454 0.00001
NM_000426.4(LAMA2):c.470C>G (p.Ser157Cys) rs756699354 0.00001
NM_001146156.2(GSK3B):c.910-2987C>T rs768507443 0.00001
NM_001927.4(DES):c.286G>T (p.Ala96Ser) rs201190593 0.00001
NM_004006.3(DMD):c.10034G>A (p.Arg3345Gln) rs2041036250 0.00001
NM_005751.5(AKAP9):c.3448C>T (p.Leu1150Phe) rs750350575 0.00001
NM_017636.4(TRPM4):c.337C>T (p.Arg113Cys) rs760925558 0.00001
NM_000088.4(COL1A1):c.4339G>T (p.Val1447Phe) rs367952133
NM_000335.5(SCN5A):c.1300T>A (p.Phe434Ile) rs1156956363
NM_001267550.2(TTN):c.4136T>C (p.Leu1379Ser) rs2533069101
NM_001267550.2(TTN):c.46216G>A (p.Asp15406Asn) rs2058075487
NM_001267550.2(TTN):c.5327C>A (p.Thr1776Asn) rs2092247700
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) rs200540781
NM_001276345.2(TNNT2):c.808G>A (p.Glu270Lys) rs1131691898
NM_001792.5(CDH2):c.1762A>G (p.Thr588Ala) rs763345128
NM_001999.4(FBN2):c.2679C>G (p.Ser893Arg) rs778473524
NM_002471.4(MYH6):c.1334A>G (p.Asn445Ser) rs2502193149
NM_004281.4(BAG3):c.653G>T (p.Arg218Leu) rs201638005
NM_014423.4(AFF4):c.2324G>C (p.Arg775Pro) rs201192755
NM_015978.3(TNNI3K):c.736G>C (p.Gly246Arg) rs748707278
NM_020433.5(JPH2):c.479G>A (p.Arg160His) rs1296009403
NM_020433.5(JPH2):c.598T>G (p.Phe200Val) rs2515745055
NM_024422.6(DSC2):c.448G>A (p.Gly150Ser) rs1220979594

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