ClinVar Miner

List of variants in gene MYBPC3 reported as likely pathogenic for Cardiomyopathy

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Gene type:
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Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195 0.00005
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796 0.00005
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000 0.00004
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655 0.00003
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys) rs397515999 0.00002
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958 0.00002
NC_000011.10:g.47335872C>T rs398123280 0.00001
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893 0.00001
NM_000256.3(MYBPC3):c.1227-2A>G rs730880531 0.00001
NM_000256.3(MYBPC3):c.3331-2A>C rs869025469 0.00001
NM_000256.3(MYBPC3):c.3G>A (p.Met1Ile) rs397516045 0.00001
NC_000011.10:g.47339702_47339705delinsCC rs397515943
NC_000011.10:g.47347065C>T rs864622197
NC_000011.10:g.47347434del rs1555122928
NC_000011.10:g.47347670del rs727503212
NC_000011.10:g.47350600_47350609del rs1565631430
NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr) rs794727046
NM_000256.3(MYBPC3):c.1101_1129dup (p.Lys377delinsArgSerTrpSerArgProThrArgTer) rs1565628520
NM_000256.3(MYBPC3):c.1168dup (p.His390fs) rs397515889
NM_000256.3(MYBPC3):c.1213A>G (p.Met405Val) rs727503207
NM_000256.3(MYBPC3):c.1223+1G>A rs730880639
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1351+2T>G rs397515897
NM_000256.3(MYBPC3):c.1419dup (p.Glu474Ter) rs2095890370
NM_000256.3(MYBPC3):c.1457_1457+25delinsC rs2495763202
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.1484G>T (p.Arg495Leu) rs200411226
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.1573del (p.Tyr525fs) rs2495762628
NM_000256.3(MYBPC3):c.1574_1580del (p.Tyr525fs) rs2142860924
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1591G>T (p.Gly531Trp) rs397515912
NM_000256.3(MYBPC3):c.1624+1G>C rs1252584025
NM_000256.3(MYBPC3):c.1696T>C (p.Cys566Arg) rs730880695
NM_000256.3(MYBPC3):c.1731G>A (p.Trp577Ter) rs730880546
NM_000256.3(MYBPC3):c.1806del (p.Ile603fs) rs730880648
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.1851dup (p.Pro618fs) rs1565627145
NM_000256.3(MYBPC3):c.2058_2061dup (p.Thr688fs) rs1565626367
NM_000256.3(MYBPC3):c.2068-1G>A rs2142857371
NM_000256.3(MYBPC3):c.2068-2A>G rs2495755085
NM_000256.3(MYBPC3):c.2148+1G>T rs1060499604
NM_000256.3(MYBPC3):c.214_215dup (p.Pro73fs) rs730880362
NM_000256.3(MYBPC3):c.223dup (p.Asp75fs) rs2095900669
NM_000256.3(MYBPC3):c.2243dup (p.Tyr749fs) rs2142856598
NM_000256.3(MYBPC3):c.2294_2295del (p.Thr765fs) rs2142856521
NM_000256.3(MYBPC3):c.241_244del (p.Val81fs) rs2142869406
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.2476del (p.Ile826fs) rs2095883614
NM_000256.3(MYBPC3):c.2532_2538del (p.Met844fs) rs730880654
NM_000256.3(MYBPC3):c.2542del (p.Ala848fs) rs2495749440
NM_000256.3(MYBPC3):c.2560_2570del (p.Met854fs) rs2095883336
NM_000256.3(MYBPC3):c.2603-1G>C rs977277400
NM_000256.3(MYBPC3):c.2603-2A>G rs1419155559
NM_000256.3(MYBPC3):c.2737+1G>A rs727504314
NM_000256.3(MYBPC3):c.2767del (p.Gly922_Leu923insTer) rs2142853009
NM_000256.3(MYBPC3):c.2871del (p.Thr958fs) rs2095880923
NM_000256.3(MYBPC3):c.2905+1G>T rs397515991
NM_000256.3(MYBPC3):c.2905+5G>T rs193922381
NM_000256.3(MYBPC3):c.2906_2994del
NM_000256.3(MYBPC3):c.2919dup (p.Gln974fs) rs1565623713
NM_000256.3(MYBPC3):c.292+1G>A rs1433492944
NM_000256.3(MYBPC3):c.2994+1del rs2095879886
NM_000256.3(MYBPC3):c.2995-2_2995-1del rs2142851672
NM_000256.3(MYBPC3):c.3116_3120del (p.His1039fs) rs1565623439
NM_000256.3(MYBPC3):c.3234G>A (p.Trp1078Ter) rs866966651
NM_000256.3(MYBPC3):c.3265_3269del (p.Pro1089fs) rs2495740123
NM_000256.3(MYBPC3):c.3268del (p.Gln1090fs) rs2095879053
NM_000256.3(MYBPC3):c.3300C>A (p.Tyr1100Ter) rs863225113
NM_000256.3(MYBPC3):c.3330+2T>A rs387906397
NM_000256.3(MYBPC3):c.333dup (p.Glu112Ter) rs730880335
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3412del (p.Arg1138fs) rs2095878612
NM_000256.3(MYBPC3):c.3476_3477del (p.Phe1159fs) rs727504321
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) rs397516028
NM_000256.3(MYBPC3):c.3600_3609del (p.Cys1201fs) rs727504271
NM_000256.3(MYBPC3):c.3620del (p.Ser1207fs) rs2095878223
NM_000256.3(MYBPC3):c.3713_3714del (p.Leu1238fs) rs2495736362
NM_000256.3(MYBPC3):c.3752_3753del (p.Tyr1251fs) rs2095877711
NM_000256.3(MYBPC3):c.3759dup (p.Arg1254fs) rs2095877700
NM_000256.3(MYBPC3):c.3764CCA[1] (p.Thr1256del) rs397516040
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.407-2A>G rs2495782142
NM_000256.3(MYBPC3):c.553A>T (p.Lys185Ter) rs375607980
NM_000256.3(MYBPC3):c.605del (p.Lys202fs) rs2095898456
NM_000256.3(MYBPC3):c.655-2A>G rs1219818351
NM_000256.3(MYBPC3):c.773-7_773dup rs2495775461
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.901A>T (p.Lys301Ter) rs730880629
NM_000256.3(MYBPC3):c.905+1G>T rs767698543
NM_000256.3(MYBPC3):c.927-1G>C rs2095894178
NM_000256.3(MYBPC3):c.93del (p.Glu32fs) rs2495786555
NM_000256.3:c.2855_3518del
NM_000256.3:c.2956_3519del

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