ClinVar Miner

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

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Gene type:
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Total variants: 42
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HGVS dbSNP
LRG_386p1:p.Ala562Prof
NM_000256.3(MYBPC3):c.1223+1G>A rs730880639
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1227-1G>T
NM_000256.3(MYBPC3):c.1351+1G>A rs727503204
NM_000256.3(MYBPC3):c.1392dup (p.Val465Glyfs)
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1624+2T>C rs111437311
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916
NM_000256.3(MYBPC3):c.1790+1G>A rs1555122053
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200
NM_000256.3(MYBPC3):c.2148+1G>T rs1060499604
NM_000256.3(MYBPC3):c.2281C>T (p.Gln761Ter)
NM_000256.3(MYBPC3):c.2374T>A (p.Trp792Arg)
NM_000256.3(MYBPC3):c.2441_2443delAGA (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) rs727503188
NM_000256.3(MYBPC3):c.2450G>A (p.Arg817Gln) rs397515964
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.2610delC (p.Ser871Alafs) rs397515979
NM_000256.3(MYBPC3):c.2614G>T (p.Glu872Ter)
NM_000256.3(MYBPC3):c.2737+2_2737+3del
NM_000256.3(MYBPC3):c.2737+5G>A rs398123280
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000
NM_000256.3(MYBPC3):c.3191-11_3193del
NM_000256.3(MYBPC3):c.3407_3409delACT (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3491-2A>T rs397516022
NM_000256.3(MYBPC3):c.3549dup (p.Thr1184Hisfs)
NM_000256.3(MYBPC3):c.3627+2T>C
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949
NM_000256.3(MYBPC3):c.3713T>C (p.Leu1238Pro) rs730880702
NM_000256.3(MYBPC3):c.3767_3769delCCA (p.Thr1256del) rs397516040
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys) rs730880603
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042
NM_000256.3(MYBPC3):c.505+1G>A rs730880620
NM_000256.3(MYBPC3):c.505+5G>C rs727503219
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser) rs397516070
NM_000256.3(MYBPC3):c.852-2A>G
NM_000256.3(MYBPC3):c.905+1G>T
NM_000256.3(MYBPC3):c.927-10C>A rs201078659
NM_000256.3(MYBPC3):c.927_928delGG (p.Asp310Leufs) rs886037902
NM_000256.3:c.342_343del

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