ClinVar Miner

List of variants in gene MYBPC3 reported as pathogenic by Ambry Genetics

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Gene type:
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Total variants: 68
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HGVS dbSNP
NM_000256.3(MYBPC3):c.1103_1107dup (p.Glu370fs) rs1555122462
NM_000256.3(MYBPC3):c.1235_1236del (p.Ile411_Phe412insTer) rs397515894
NM_000256.3(MYBPC3):c.1458-1G>A rs397515903
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000256.3(MYBPC3):c.1483del (p.Arg495fs) rs1555122196
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907
NM_000256.3(MYBPC3):c.1570_1594del (p.His524fs) rs1555122156
NM_000256.3(MYBPC3):c.1624+2T>C rs111437311
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374
NM_000256.3(MYBPC3):c.1633_1640del (p.Leu545fs) rs878853831
NM_000256.3(MYBPC3):c.1774_1775GT[1] (p.Ser593fs) rs730880713
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs) rs397515925
NM_000256.3(MYBPC3):c.1800del (p.Lys600fs) rs397515926
NM_000256.3(MYBPC3):c.1827_1846delinsTACAGC (p.Asp610fs) rs1555121907
NM_000256.3(MYBPC3):c.1924C>T (p.Gln642Ter) rs727504293
NM_000256.3(MYBPC3):c.1927G>T (p.Glu643Ter) rs1555121871
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937
NM_000256.3(MYBPC3):c.2158G>T (p.Glu720Ter) rs886039028
NM_000256.3(MYBPC3):c.2258dup (p.Lys754fs) rs774521272
NM_000256.3(MYBPC3):c.2309-2A>G rs111729952
NM_000256.3(MYBPC3):c.2310del (p.Asp770fs) rs1555121331
NM_000256.3(MYBPC3):c.2311dup (p.Val771fs) rs397515960
NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter) rs863225106
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) rs397515963
NM_000256.3(MYBPC3):c.2451del (p.Trp818fs) rs1555121247
NM_000256.3(MYBPC3):c.2455_2459del (p.Met819fs) rs730880652
NM_000256.3(MYBPC3):c.26-2A>G rs376395543
NM_000256.3(MYBPC3):c.2604_2605insA (p.Pro869fs) rs1555120956
NM_000256.3(MYBPC3):c.2727C>A (p.Cys909Ter) rs886038822
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) rs387907267
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter) rs397516005
NM_000256.3(MYBPC3):c.3190+1G>A rs111683277
NM_000256.3(MYBPC3):c.3190+2T>G rs113358486
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958
NM_000256.3(MYBPC3):c.3192dup (p.Lys1065fs) rs397516007
NM_000256.3(MYBPC3):c.3226_3227insT (p.Asp1076fs) rs397516008
NM_000256.3(MYBPC3):c.3228_3229insT (p.Ala1077fs) rs1555120529
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377
NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs) rs727503172
NM_000256.3(MYBPC3):c.3294G>A (p.Trp1098Ter) rs767039057
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3331-1G>C rs727504305
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter) rs727504289
NM_000256.3(MYBPC3):c.3408C>A (p.Tyr1136Ter) rs193922383
NM_000256.3(MYBPC3):c.350del (p.Pro117fs) rs397516023
NM_000256.3(MYBPC3):c.3627+1G>A rs397516031
NM_000256.3(MYBPC3):c.3627+2del rs1555120258
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037
NM_000256.3(MYBPC3):c.373_374del (p.Ala124_Ala125insTer) rs1057517767
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs) rs727503166
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042
NM_000256.3(MYBPC3):c.405dup (p.Gly136fs) rs1555123597
NM_000256.3(MYBPC3):c.480del (p.Pro161fs) rs1555123496
NM_000256.3(MYBPC3):c.505_505+7delGGTGAGTG rs1555123473
NM_000256.3(MYBPC3):c.655-1G>A rs397516067
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.660T>G (p.Tyr220Ter) rs1555123138
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074
NM_000256.3(MYBPC3):c.821+1G>A rs397516073
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) rs727503212
NM_000256.3(MYBPC3):c.927-2A>G rs397516082
NM_000256.3(MYBPC3):c.966G>A (p.Trp322Ter) rs727503211
NM_000256.3(MYBPC3):c.999C>G (p.Tyr333Ter) rs367947846

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