ClinVar Miner

List of variants in gene MYBPC3 reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000256.3(MYBPC3):c.1789C>T (p.Arg597Trp) rs201596087 0.00005
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796 0.00005
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_000256.3(MYBPC3):c.3373G>A (p.Val1125Met) rs121909378 0.00004
NM_000256.3(MYBPC3):c.557C>T (p.Pro186Leu) rs727503216 0.00004
NM_000256.3(MYBPC3):c.2249C>T (p.Thr750Met) rs727503189 0.00003
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His) rs727503191 0.00002
NM_000256.3(MYBPC3):c.1227-2A>G rs730880531 0.00001
NM_000256.3(MYBPC3):c.1409G>A (p.Arg470Gln) rs776734314 0.00001
NM_000256.3(MYBPC3):c.1685C>T (p.Ala562Val) rs730880694 0.00001
NM_000256.3(MYBPC3):c.3331-2A>C rs869025469 0.00001
NM_000256.3(MYBPC3):c.406+1G>A rs1223603416 0.00001
NM_000256.3(MYBPC3):c.926+1G>A rs767239679 0.00001
NC_000011.9:g.(?_47358756)_47367811del
NC_000011.9:g.(?_47362467)_(47362574_?)del
NC_000011.9:g.(?_47362544)_(47368616_?)del
NM_000256.3(MYBPC3):c.1091-2A>G rs2142862326
NM_000256.3(MYBPC3):c.1133_1226+6delinsA rs2142861940
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1227-1G>A
NM_000256.3(MYBPC3):c.1227-39_1263del
NM_000256.3(MYBPC3):c.1352-1G>A
NM_000256.3(MYBPC3):c.1352-2_1355del rs2095890510
NM_000256.3(MYBPC3):c.1449_1457+4del rs2142861325
NM_000256.3(MYBPC3):c.1457+5G>C rs727503202
NM_000256.3(MYBPC3):c.1457_1457+1delinsCT
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1684_1698delinsCCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAG (p.Ala562_Cys566delinsProCysSerProArgProSerTyrCysGlyCysSerThrArgAlaProLeuProThrProGlyCysThrCysArgSerSerGlySerProGlyHisSerTer) rs1565627566
NM_000256.3(MYBPC3):c.1791-2del
NM_000256.3(MYBPC3):c.2068-2A>G
NM_000256.3(MYBPC3):c.2148+1G>T rs1060499604
NM_000256.3(MYBPC3):c.2246A>G (p.Tyr749Cys) rs1464769206
NM_000256.3(MYBPC3):c.2285T>A (p.Val762Asp) rs1595844241
NM_000256.3(MYBPC3):c.2291_2308+3del
NM_000256.3(MYBPC3):c.2302_2308+22del
NM_000256.3(MYBPC3):c.2308G>C (p.Asp770His) rs36211723
NM_000256.3(MYBPC3):c.2374T>A (p.Trp792Arg) rs187830361
NM_000256.3(MYBPC3):c.2414-1G>A rs863224899
NM_000256.3(MYBPC3):c.2414-2A>G
NM_000256.3(MYBPC3):c.2449C>G (p.Arg817Gly) rs727503188
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) rs727503188
NM_000256.3(MYBPC3):c.2543C>A (p.Ala848Glu) rs730880569
NM_000256.3(MYBPC3):c.2603-1G>A rs977277400
NM_000256.3(MYBPC3):c.2603-1G>C rs977277400
NM_000256.3(MYBPC3):c.2603-1G>T
NM_000256.3(MYBPC3):c.2603-2A>G rs1419155559
NM_000256.3(MYBPC3):c.2731_2737+19del rs2095881691
NM_000256.3(MYBPC3):c.2737+1G>A rs727504314
NM_000256.3(MYBPC3):c.2737+2_2737+3del rs1265248322
NM_000256.3(MYBPC3):c.2906-1G>A rs1409755826
NM_000256.3(MYBPC3):c.2906-2A>G rs727504333
NM_000256.3(MYBPC3):c.292+1G>A rs1433492944
NM_000256.3(MYBPC3):c.292+1del rs2142869314
NM_000256.3(MYBPC3):c.293-174_307del
NM_000256.3(MYBPC3):c.293-1G>C
NM_000256.3(MYBPC3):c.2994+1del rs2095879886
NM_000256.3(MYBPC3):c.2995-58_3151delinsTACCAGGCC
NM_000256.3(MYBPC3):c.3182_3190+4del rs730880718
NM_000256.3(MYBPC3):c.3191-1G>A rs2095879167
NM_000256.3(MYBPC3):c.3191-1G>C rs2095879167
NM_000256.3(MYBPC3):c.3331-1G>A rs727504305
NM_000256.3(MYBPC3):c.3331-1G>C rs727504305
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro) rs187705120
NM_000256.3(MYBPC3):c.3491-3C>G rs730880592
NM_000256.3(MYBPC3):c.3593_3627+20del
NM_000256.3(MYBPC3):c.3627+2T>C rs1299079662
NM_000256.3(MYBPC3):c.3713T>C (p.Leu1238Pro) rs730880702
NM_000256.3(MYBPC3):c.3751T>C (p.Tyr1251His) rs730880601
NM_000256.3(MYBPC3):c.3764CCA[1] (p.Thr1256del) rs397516040
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.3815-2A>G
NM_000256.3(MYBPC3):c.407-1G>A rs185449721
NM_000256.3(MYBPC3):c.407-2A>G
NM_000256.3(MYBPC3):c.505+1G>A rs730880620
NM_000256.3(MYBPC3):c.505+1G>C
NM_000256.3(MYBPC3):c.505+1G>T
NM_000256.3(MYBPC3):c.505_505+7del rs1555123473
NM_000256.3(MYBPC3):c.506-13_585delinsATT
NM_000256.3(MYBPC3):c.654+1G>A rs730880621
NM_000256.3(MYBPC3):c.654+2T>C rs2142867623
NM_000256.3(MYBPC3):c.772+2T>C
NM_000256.3(MYBPC3):c.852-1G>T rs368121566
NM_000256.3(MYBPC3):c.852-2A>C
NM_000256.3(MYBPC3):c.852-2A>G rs1565629792
NM_000256.3(MYBPC3):c.905+1G>A
NM_000256.3(MYBPC3):c.905+1G>T rs767698543
NM_000256.3(MYBPC3):c.926+1G>C rs767239679
NM_000256.3(MYBPC3):c.926+2T>C rs1595847941
NM_000256.3(MYBPC3):c.933_1090+396del

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