ClinVar Miner

List of variants studied for cardiomyopathy by Center of Genomic medicine, Geneva, University Hospital of Geneva

Included ClinVar conditions (559):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_014000.3(VCL):c.2828_2829del (p.Pro943fs) rs781036800 0.00014
NM_002230.4(JUP):c.526C>T (p.Arg176Trp) rs368336007 0.00007
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_001368067.1(LDB3):c.802C>T (p.Arg268Cys) rs121908335 0.00004
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_014000.3(VCL):c.853C>T (p.Arg285Cys) rs757517552 0.00002
NM_032578.4(MYPN):c.1105G>A (p.Asp369Asn) rs764775347 0.00002
NC_000011.10:g.47335082_47335083del rs397515990 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_001267550.2(TTN):c.60733C>T (p.Arg20245Ter) rs1057522256 0.00001
NM_001276345.2(TNNT2):c.482G>A (p.Arg161His) rs201048783 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) rs777219451 0.00001
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889 0.00001
NM_000256.3(MYBPC3):c.1800delA rs397515926
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937
NM_000256.3(MYBPC3):c.2149-2del rs1555121488
NM_000256.3(MYBPC3):c.2766del (p.Gly922_Leu923insTer) rs1565624196
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) rs397515992
NM_000256.3(MYBPC3):c.3324_3325del (p.Lys1108fs) rs1060499673
NM_000256.3(MYBPC3):c.3460delinsCT (p.Thr1154fs)
NM_000256.3(MYBPC3):c.3559del (p.Leu1187fs) rs1555120300
NM_000256.3(MYBPC3):c.3732C>A (p.Cys1244Ter) rs730880600
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000258.3(MYL3):c.481G>T (p.Gly161Cys) rs1356433667
NM_000265.6(NCF1):c.*179G>A rs1057519503
NM_000432.4(MYL2):c.484G>A (p.Gly162Arg) rs199474814
NM_001035.3(RYR2):c.14711G>A (p.Gly4904Asp) rs886038888
NM_001267550.2(TTN):c.29094_29095del (p.Phe9700fs) rs1553882262
NM_001267550.2(TTN):c.77100dup (p.Pro25701fs) rs794729343
NM_001267550.2(TTN):c.98633dup (p.Ser32879fs)
NM_001276345.2(TNNT2):c.115del (p.Glu39fs) rs1553284388
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) rs74315379
NM_001927.4(DES):c.1195G>T (p.Asp399Tyr) rs61130669
NM_001943.5(DSG2):c.1361A>C (p.Asp454Ala) rs1567930368
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) rs397507514
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_004415.4(DSP):c.4003C>T (p.Gln1335Ter) rs879255521
NM_004999.4(MYO6):c.548T>A (p.Val183Asp) rs1060499650
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_006767.4(LZTR1):c.1676T>A (p.Leu559Ter)
NM_006767.4(LZTR1):c.2076T>A (p.Phe692Leu)
NM_014000.3(VCL):c.2035G>T (p.Ala679Ser) rs375392559
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT rs869025349
NM_032578.4(MYPN):c.2704-1G>A rs865921466
NM_174934.4(SCN4B):c.271C>A (p.Pro91Thr) rs113659925

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