ClinVar Miner

List of variants studied for cardiomyopathy by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688 0.00122
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249 0.00046
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806 0.00039
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851 0.00024
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala) rs121909298 0.00012
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser) rs375679311 0.00011
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) rs56851164 0.00009
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00004
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000 0.00004
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380 0.00003
NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser) rs369940645 0.00002
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326 0.00002
NM_000337.6(SGCD):c.4-1G>A rs1554094927 0.00001
NM_001035.3(RYR2):c.505C>T (p.Arg169Ter) rs749930577 0.00001
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln) rs267607001 0.00001
NM_001267550.2(TTN):c.56648-1G>A rs769912484 0.00001
NM_001267550.2(TTN):c.67348+1G>A rs758279518 0.00001
NM_001927.4(DES):c.1063C>T (p.Arg355Ter) rs762808690 0.00001
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter) rs745993071 0.00001
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NC_012920.1(MT-ND6):m.14502T>C rs201327354
NC_012920.1:m.11778G>A rs199476112
NC_012920.1:m.14484T>C rs199476104
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000231.3(SGCG):c.579-5729_702+1720del
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_001005242.3(PKP2):c.1511del (p.Gly504fs) rs794729137
NM_001035.3(RYR2):c.14161T>C (p.Tyr4721His) rs1660612706
NM_001267550.2(TTN):c.36281dup (p.His12095fs) rs2154259448
NM_001267550.2(TTN):c.4085A>G (p.Tyr1362Cys) rs965997128
NM_001267550.2(TTN):c.56347+1G>A rs1576251664
NM_001267550.2(TTN):c.74760_74767delinsAC (p.Ser24921_Asp24923delinsHis) rs2154169263
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) rs121913250
NM_002633.3(PGM1):c.157_158delinsG (p.Gln53fs) rs1647935062
NM_002633.3(PGM1):c.423del (p.Ala142fs) rs2100982320
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu) rs727504819
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_004333.6(BRAF):c.1497A>T (p.Lys499Asn) rs397507476
NM_004333.6(BRAF):c.1592G>C (p.Trp531Ser) rs397507478
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004959.5(NR5A1):c.990G>A (p.Glu330=) rs1588618614
NM_005343.4(HRAS):c.35_36delinsTT (p.Gly12Val) rs727503094
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_006767.4(LZTR1):c.443A>G (p.Asn148Ser)
NM_006912.6(RIT1):c.268A>G (p.Met90Val)

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