ClinVar Miner

List of variants in gene MYBPC3 reported as pathogenic for Hypertrophic cardiomyopathy 4

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Gene type:
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Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688 0.00122
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851 0.00024
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00009
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000256.3(MYBPC3):c.1224-80G>A rs1025692267 0.00005
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.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.2285T>A (p.Val762Asp) rs1595844241 0.00004
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397 0.00004
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met) rs121909378 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907 0.00003
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916 0.00003
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655 0.00003
NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter) rs397516005 0.00003
NM_000256.3(MYBPC3):c.927-2A>G rs397516082 0.00003
NC_000011.10:g.47337730dup rs397515963 0.00002
NM_000256.3(MYBPC3):c.1224-52G>A rs786204336 0.00002
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534 0.00002
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) rs387907267 0.00002
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958 0.00002
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068 0.00002
NM_000256.3(MYBPC3):c.927-9G>A rs397516083 0.00002
NC_000011.10:g.47335082_47335083del rs397515990 0.00001
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893 0.00001
NM_000256.3(MYBPC3):c.1458-1G>C rs397515903 0.00001
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937 0.00001
NM_000256.3(MYBPC3):c.3190+1G>A rs111683277 0.00001
NM_000256.3(MYBPC3):c.3190+2T>G rs113358486 0.00001
NM_000256.3(MYBPC3):c.3226_3227insT (p.Asp1076fs) rs397516008 0.00001
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377 0.00001
NM_000256.3(MYBPC3):c.3490+1G>T rs397516020 0.00001
NM_000256.3(MYBPC3):c.3491-2A>T rs397516022 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042 0.00001
NM_000256.3(MYBPC3):c.821+1G>A rs397516073 0.00001
NC_000011.10:g.47332110del rs727503166
NC_000011.10:g.47333189C>T rs373746463
NC_000011.10:g.47333236del rs727503172
NC_000011.10:g.47337436del rs397515977
NC_000011.10:g.47339379del rs397515947
NC_000011.10:g.47339702_47339705delinsCC rs397515943
NC_000011.10:g.47339718_47339719delinsC rs727503192
NC_000011.10:g.47347065C>T rs864622197
NC_000011.10:g.47347434del rs1555122928
NC_000011.10:g.47347670del rs727503212
NC_000011.10:g.47348498_47348523dup rs786204329
NG_007667.1:g.(47337390_47336011)_(47331406_?)del
NM_000256.3(MYBPC3):c.1000G>T (p.Glu334Ter) rs573916965
NM_000256.3(MYBPC3):c.1090+1G>A rs727504269
NM_000256.3(MYBPC3):c.1113_1116del (p.Ala372fs) rs2495765762
NM_000256.3(MYBPC3):c.1120C>T (p.Gln374Ter) rs730880635
NM_000256.3(MYBPC3):c.1223+2T>C rs730880641
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1227-1G>C rs113276889
NM_000256.3(MYBPC3):c.1302C>A (p.Tyr434Ter) rs190228518
NM_000256.3(MYBPC3):c.1302C>G (p.Tyr434Ter) rs190228518
NM_000256.3(MYBPC3):c.1303C>T (p.Gln435Ter) rs1432810664
NM_000256.3(MYBPC3):c.1351+1G>A rs727503204
NM_000256.3(MYBPC3):c.1351+2T>C rs397515897
NM_000256.3(MYBPC3):c.1357_1358del (p.Pro453fs) rs727503203
NM_000256.3(MYBPC3):c.1358dup (p.Val454fs) rs727503203
NM_000256.3(MYBPC3):c.1367del (p.Ile456fs) rs1595846398
NM_000256.3(MYBPC3):c.1377del (p.Leu460fs) rs786204339
NM_000256.3(MYBPC3):c.1383_1384dup (p.Asp462fs) rs2095890455
NM_000256.3(MYBPC3):c.1469G>T (p.Gly490Val) rs397514752
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.1522C>T (p.Gln508Ter) rs730880544
NM_000256.3(MYBPC3):c.1575_1588del (p.Tyr525_Ser530delinsTer) rs2495762572
NM_000256.3(MYBPC3):c.1595dup (p.Gln533fs) rs730880640
NM_000256.3(MYBPC3):c.159del (p.Asn53fs)
NM_000256.3(MYBPC3):c.1624+2T>C rs111437311
NM_000256.3(MYBPC3):c.1645C>T (p.Gln549Ter) rs2142860329
NM_000256.3(MYBPC3):c.1652_1656del (p.Ile551fs) rs730880644
NM_000256.3(MYBPC3):c.1678del (p.Asp560fs) rs727504366
NM_000256.3(MYBPC3):c.175A>G (p.Thr59Ala) rs121909375
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs) rs397515925
NM_000256.3(MYBPC3):c.1800delA rs397515926
NM_000256.3(MYBPC3):c.1855G>T (p.Glu619Ter)
NM_000256.3(MYBPC3):c.1898-1G>T
NM_000256.3(MYBPC3):c.2065C>T (p.Gln689Ter) rs863224483
NM_000256.3(MYBPC3):c.2067+1G>A rs1444727212
NM_000256.3(MYBPC3):c.2068-9T>A
NM_000256.3(MYBPC3):c.2149-1G>T rs727504334
NM_000256.3(MYBPC3):c.2149-2del rs1555121488
NM_000256.3(MYBPC3):c.2164G>T (p.Glu722Ter) rs730880696
NM_000256.3(MYBPC3):c.2234A>G (p.Asp745Gly) rs727503190
NM_000256.3(MYBPC3):c.2267del (p.Pro756fs) rs730880651
NM_000256.3(MYBPC3):c.226C>T (p.Gln76Ter) rs1383067193
NM_000256.3(MYBPC3):c.229G>T (p.Gly77Ter) rs869025459
NM_000256.3(MYBPC3):c.2306del (p.Ile769fs)
NM_000256.3(MYBPC3):c.2308+1G>A rs112738974
NM_000256.3(MYBPC3):c.2309-1G>A
NM_000256.3(MYBPC3):c.2309-26A>G rs886041030
NM_000256.3(MYBPC3):c.2309-2A>G rs111729952
NM_000256.3(MYBPC3):c.2309-3C>G
NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter) rs863225106
NM_000256.3(MYBPC3):c.237C>G (p.Tyr79Ter) rs730880698
NM_000256.3(MYBPC3):c.2413+1G>A rs1595843828
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.25+1G>A rs113709679
NM_000256.3(MYBPC3):c.2534_2538del (p.Arg845fs) rs397515973
NM_000256.3(MYBPC3):c.2578_2590dup (p.Phe864fs) rs2142855105
NM_000256.3(MYBPC3):c.2603-2A>G rs1419155559
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His) rs371401403
NM_000256.3(MYBPC3):c.2678del (p.Pro893fs) rs1247143185
NM_000256.3(MYBPC3):c.2743G>T (p.Glu915Ter)
NM_000256.3(MYBPC3):c.2766del (p.Gly922_Leu923insTer) rs1565624196
NM_000256.3(MYBPC3):c.2778_2781dup (p.Ser928fs) rs727504265
NM_000256.3(MYBPC3):c.2780_2781del (p.Thr927fs) rs727504265
NM_000256.3(MYBPC3):c.2783C>A (p.Ser928Ter)
NM_000256.3(MYBPC3):c.2806_2807del (p.Thr936fs) rs2495744499
NM_000256.3(MYBPC3):c.2833_2834del (p.Arg945fs) rs397515987
NM_000256.3(MYBPC3):c.2846dup (p.Met949fs) rs786204352
NM_000256.3(MYBPC3):c.2893C>T (p.Gln965Ter) rs730880578
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) rs397515992
NM_000256.3(MYBPC3):c.3015_3036dup (p.Pro1013fs)
NM_000256.3(MYBPC3):c.3029del (p.Glu1010fs)
NM_000256.3(MYBPC3):c.3034C>T (p.Gln1012Ter) rs730880586
NM_000256.3(MYBPC3):c.3043dup (p.Ala1015fs) rs869025468
NM_000256.3(MYBPC3):c.313_334dup (p.Glu112delinsGlyProCysProCysProCysTer) rs2495783722
NM_000256.3(MYBPC3):c.3163A>T (p.Lys1055Ter) rs869025461
NM_000256.3(MYBPC3):c.3168del (p.Thr1057fs) rs760491068
NM_000256.3(MYBPC3):c.3233G>A (p.Trp1078Ter) rs397516006
NM_000256.3(MYBPC3):c.3313_3314insGG (p.Ala1105fs) rs2142850797
NM_000256.3(MYBPC3):c.3324_3325del (p.Lys1108fs) rs1060499673
NM_000256.3(MYBPC3):c.3327del (p.Met1110fs) rs730880719
NM_000256.3(MYBPC3):c.332_335dup (p.Glu112delinsAspTer) rs886037901
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter) rs727504289
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3460delinsCT (p.Thr1154fs) rs2495738577
NM_000256.3(MYBPC3):c.3467dup (p.Pro1157fs) rs730880720
NM_000256.3(MYBPC3):c.3476_3477insATTT (p.Phe1159fs) rs1595841206
NM_000256.3(MYBPC3):c.3490+1G>A rs397516020
NM_000256.3(MYBPC3):c.3559del (p.Leu1187fs) rs1555120300
NM_000256.3(MYBPC3):c.3624delC rs397516029
NM_000256.3(MYBPC3):c.3659_3662delinsTTCAAGAATGGC (p.Asp1220fs) rs886041031
NM_000256.3(MYBPC3):c.3677dup (p.Phe1227fs) rs2495736532
NM_000256.3(MYBPC3):c.3732C>A (p.Cys1244Ter) rs730880600
NM_000256.3(MYBPC3):c.3735del (p.Phe1246fs) rs397516038
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000256.3(MYBPC3):c.3766del (p.Thr1256fs) rs2095877685
NM_000256.3(MYBPC3):c.3799del (p.Arg1267fs) rs1595840648
NM_000256.3(MYBPC3):c.3805G>T (p.Glu1269Ter) rs2495735937
NM_000256.3(MYBPC3):c.388del (p.Ser130fs) rs2495783474
NM_000256.3(MYBPC3):c.410C>G (p.Ser137Ter) rs730880703
NM_000256.3(MYBPC3):c.416C>G (p.Ser139Ter) rs730880704
NM_000256.3(MYBPC3):c.431_432del (p.Gly144fs) rs397516047
NM_000256.3(MYBPC3):c.481C>T (p.Pro161Ser) rs397516053
NM_000256.3(MYBPC3):c.484C>T (p.Gln162Ter) rs730880618
NM_000256.3(MYBPC3):c.506-1G>A rs397516056
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs) rs397516059
NM_000256.3(MYBPC3):c.553A>T (p.Lys185Ter) rs375607980
NM_000256.3(MYBPC3):c.58del (p.Glu20fs)
NM_000256.3(MYBPC3):c.613C>T (p.Gln205Ter) rs397516061
NM_000256.3(MYBPC3):c.654+1G>A rs730880621
NM_000256.3(MYBPC3):c.772+1G>A rs397516072
NM_000256.3(MYBPC3):c.821+1G>T rs397516073
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.86del (p.Phe29fs) rs2142869802
NM_000256.3(MYBPC3):c.884del (p.Phe295fs) rs730880684
NM_000256.3(MYBPC3):c.906-1G>C rs587776700
NM_000256.3(MYBPC3):c.913_914delTT rs397516080
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter) rs193922386
NM_000256.3(MYBPC3):c.946_962del (p.Pro316fs)

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