ClinVar Miner

List of variants studied for cardiomyopathy by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys) rs74315511 0.00011
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000152.5(GAA):c.877G>A (p.Gly293Arg) rs121907945 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) rs111033560 0.00002
NM_005138.3(SCO2):c.178C>T (p.Arg60Trp) rs753779965 0.00002
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990 0.00001
NM_000256.3(MYBPC3):c.3190+1G>A rs111683277 0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625 0.00001
NM_001281740.3(FHOD3):c.1583A>G (p.Tyr528Cys) rs2036159242 0.00001
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241 0.00001
NM_000018.4(ACADVL):c.515T>C (p.Leu172Pro) rs1597524963
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del) rs769280599
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.542-3C>G rs781795144
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter) rs1033313360
NM_000256.3(MYBPC3):c.2678del (p.Pro893fs)
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.431_432del (p.Gly144fs) rs397516047
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2642T>G (p.Leu881Arg) rs1566531303
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr) rs397516258
NM_000363.5(TNNI3):c.470C>T (p.Ala157Val) rs397516353
NM_000363.5(TNNI3):c.508C>T (p.Arg170Trp) rs727503504
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) rs397516355
NM_000371.4(TTR):c.112G>T (p.Asp38Tyr)
NM_001005242.3(PKP2):c.1482G>A (p.Trp494Ter) rs397517001
NM_001042424.3(NSD2):c.3295G>A (p.Glu1099Lys) rs772470710
NM_001267550.2(TTN):c.66906_66907del (p.Asp22304fs)
NM_001267550.2(TTN):c.77013T>A (p.Tyr25671Ter)
NM_001276345.2(TNNT2):c.644G>C (p.Arg215Pro) rs121964860
NM_001374736.1(DST):c.5850del (p.Pro1950_Val1951insTer)
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_002745.5(MAPK1):c.946T>C (p.Tyr316His)
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002834.5(PTPN11):c.1271C>T (p.Pro424Leu) rs1592852902
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) rs121918470
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002880.4(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter) rs104894797
NM_004333.6(BRAF):c.1574T>A (p.Leu525Gln) rs869025340
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.823G>A (p.Glu275Lys) rs2129044284
NM_004415.4(DSP):c.1234C>T (p.Gln412Ter) rs1758912749
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) rs387907170
NM_004985.5(KRAS):c.440A>T (p.Lys147Met)
NM_005633.4(SOS1):c.305C>T (p.Pro102Leu)
NM_006003.3(UQCRFS1):c.215-1G>C rs1568344751
NM_006003.3(UQCRFS1):c.41T>A (p.Val14Asp) rs1568346416
NM_006003.3(UQCRFS1):c.610C>T (p.Arg204Ter) rs1242465339
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268
NM_030662.4(MAP2K2):c.376A>G (p.Asn126Asp) rs1057519806
NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys) rs58436778
NM_170707.4(LMNA):c.1385A>C (p.Gln462Pro) rs1553265999

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