ClinVar Miner

List of variants reported as likely pathogenic for Hypertrophic cardiomyopathy 4

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Total variants: 135
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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.3412C>T (p.Arg1138Cys) rs377171707 0.00009
NM_000256.3(MYBPC3):c.640G>A (p.Asp214Asn) rs769167548 0.00008
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 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.2381C>T (p.Pro794Leu) rs730880565 0.00005
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796 0.00005
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000 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.223G>A (p.Asp75Asn) rs375471260 0.00003
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00003
NM_000256.3(MYBPC3):c.1224-52G>A rs786204336 0.00002
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys) rs397515999 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
NC_000011.10:g.47335082_47335083del rs397515990 0.00001
NM_000256.3(MYBPC3):c.2273G>A (p.Gly758Asp) rs1163861044 0.00001
NM_000256.3(MYBPC3):c.2490dup (p.His831fs) rs397515966 0.00001
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377 0.00001
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_000256.3(MYBPC3):c.851+2T>C rs1194615408 0.00001
NC_000011.10:g.47332282_47332306del rs36212066
NC_000011.10:g.47332705G>C rs730880592
NC_000011.10:g.47347065C>T rs864622197
NM_000256.3(MYBPC3):c.1090+453C>T rs2095893477
NM_000256.3(MYBPC3):c.109G>T (p.Gly37Ter)
NM_000256.3(MYBPC3):c.1128del (p.Ser376fs) rs2095891398
NM_000256.3(MYBPC3):c.115A>T (p.Lys39Ter)
NM_000256.3(MYBPC3):c.1168del (p.His390fs) rs397515889
NM_000256.3(MYBPC3):c.1224-33G>A
NM_000256.3(MYBPC3):c.1225A>T (p.Lys409Ter) rs1114167419
NM_000256.3(MYBPC3):c.1280C>A (p.Ser427Ter) rs2495764248
NM_000256.3(MYBPC3):c.1329T>A (p.Cys443Ter) rs2495764042
NM_000256.3(MYBPC3):c.1357C>T (p.Pro453Ser) rs749310275
NM_000256.3(MYBPC3):c.1358dup (p.Val454fs) rs727503203
NM_000256.3(MYBPC3):c.1394dup (p.Met466fs)
NM_000256.3(MYBPC3):c.1404delG rs886037900
NM_000256.3(MYBPC3):c.1457+5G>C rs727503202
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.1526_1527del (p.Arg509fs) rs2142861049
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1595dup (p.Gln533fs) rs730880640
NM_000256.3(MYBPC3):c.1609G>T (p.Glu537Ter) rs2142860830
NM_000256.3(MYBPC3):c.1641_1642del (p.Tyr548fs) rs398123279
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.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.1908dup (p.Asp637Ter) rs2495759181
NM_000256.3(MYBPC3):c.1927+1G>T rs2142859053
NM_000256.3(MYBPC3):c.1927+337G>T
NM_000256.3(MYBPC3):c.1927+600C>T rs1595845204
NM_000256.3(MYBPC3):c.2065C>T (p.Gln689Ter) rs863224483
NM_000256.3(MYBPC3):c.2067+2del rs2495755876
NM_000256.3(MYBPC3):c.2079_2082dup (p.Ala695fs) rs1595844714
NM_000256.3(MYBPC3):c.2148+1G>A rs1060499604
NM_000256.3(MYBPC3):c.2149-2A>C rs2142856729
NM_000256.3(MYBPC3):c.2240del (p.Gly747fs) rs2495752399
NM_000256.3(MYBPC3):c.2265C>A (p.Asn755Lys) rs1060501474
NM_000256.3(MYBPC3):c.227dup (p.Ser78fs) rs863225111
NM_000256.3(MYBPC3):c.2362dup (p.Cys788fs)
NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter) rs863225106
NM_000256.3(MYBPC3):c.2376G>A (p.Trp792Ter) rs863225112
NM_000256.3(MYBPC3):c.2394dup (p.Gly799fs) rs730880341
NM_000256.3(MYBPC3):c.2425G>T (p.Glu809Ter)
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) rs727503188
NM_000256.3(MYBPC3):c.2449del (p.Arg817fs) rs2495749842
NM_000256.3(MYBPC3):c.2453G>A (p.Trp818Ter) rs1419032418
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.2459G>C (p.Arg820Pro) rs2856655
NM_000256.3(MYBPC3):c.2541C>G (p.Tyr847Ter) rs397515974
NM_000256.3(MYBPC3):c.2550del (p.Asn850fs) rs863225105
NM_000256.3(MYBPC3):c.2578_2590dup (p.Phe864fs) rs2142855105
NM_000256.3(MYBPC3):c.2595delinsATA (p.Met865fs)
NM_000256.3(MYBPC3):c.26-1G>T rs1222795773
NM_000256.3(MYBPC3):c.2602+1G>A rs2495749193
NM_000256.3(MYBPC3):c.2670dup (p.Arg891fs) rs863225104
NM_000256.3(MYBPC3):c.2738-2A>G rs1595842632
NM_000256.3(MYBPC3):c.2738-2A>T rs1595842632
NM_000256.3(MYBPC3):c.3020G>A (p.Trp1007Ter) rs1565623533
NM_000256.3(MYBPC3):c.3034C>T (p.Gln1012Ter) rs730880586
NM_000256.3(MYBPC3):c.306del (p.Met103fs) rs863225109
NM_000256.3(MYBPC3):c.3158_3159del (p.Glu1053fs)
NM_000256.3(MYBPC3):c.3184del (p.Val1062fs) rs1595841736
NM_000256.3(MYBPC3):c.3227_3233del (p.Asp1076fs) rs2495740224
NM_000256.3(MYBPC3):c.3300C>A (p.Tyr1100Ter) rs863225113
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
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.3414dup (p.Val1139fs) rs863225114
NM_000256.3(MYBPC3):c.3447_3453del (p.Asp1149fs)
NM_000256.3(MYBPC3):c.3471del (p.Val1158fs) rs2495738531
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) rs397516028
NM_000256.3(MYBPC3):c.3617G>T (p.Gly1206Val) rs1057517769
NM_000256.3(MYBPC3):c.3620del (p.Ser1207fs) rs2095878223
NM_000256.3(MYBPC3):c.3624dup (p.Lys1209fs) rs397516029
NM_000256.3(MYBPC3):c.3662del (p.Leu1221fs) rs863225107
NM_000256.3(MYBPC3):c.3707_3708delinsGA (p.Leu1236Ter)
NM_000256.3(MYBPC3):c.3713T>C (p.Leu1238Pro) rs730880702
NM_000256.3(MYBPC3):c.3713_3714del (p.Leu1238fs) rs2495736362
NM_000256.3(MYBPC3):c.3747_3748insGG (p.Ile1250fs) rs2495736235
NM_000256.3(MYBPC3):c.3759dup (p.Arg1254fs) rs2095877700
NM_000256.3(MYBPC3):c.3764CCA[1] (p.Thr1256del) rs397516040
NM_000256.3(MYBPC3):c.3768_3771del (p.Asn1257fs) rs2142849245
NM_000256.3(MYBPC3):c.3784_3795del (p.Ala1262_Glu1265del)
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.450del (p.Asp151fs) rs730880677
NM_000256.3(MYBPC3):c.482C>G (p.Pro161Arg) rs1565631094
NM_000256.3(MYBPC3):c.505+1dup rs2495781550
NM_000256.3(MYBPC3):c.506-1G>A rs397516056
NM_000256.3(MYBPC3):c.519del (p.Phe174fs) rs1595849742
NM_000256.3(MYBPC3):c.560del (p.Pro187fs) rs2495780708
NM_000256.3(MYBPC3):c.655-2A>G rs1219818351
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser) rs397516070
NM_000256.3(MYBPC3):c.711C>A (p.Tyr237Ter) rs774316050
NM_000256.3(MYBPC3):c.755del (p.Phe252fs)
NM_000256.3(MYBPC3):c.772+4A>T
NM_000256.3(MYBPC3):c.773-1G>C rs2142865708
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.852-2A>G rs1565629792
NM_000256.3(MYBPC3):c.905+1G>T rs767698543
NM_000256.3(MYBPC3):c.913_914delTT rs397516080
NM_000256.3(MYBPC3):c.927-1G>C rs2095894178
NM_000256.3(MYBPC3):c.927-3C>A
NM_000256.3(MYBPC3):c.927_928delGG rs886037902
NM_001256715.2(DNAAF3):c.331G>A (p.Glu111Lys) rs2515529863
NM_001276345.2(TNNT2):c.268C>A (p.Pro90Thr) rs397516451

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