List of variants in gene MYBPC3 reported as likely pathogenic for congenital anomaly of cardiovascular system

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys)	rs752200396	0.00011
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)	rs375882485	0.00010
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys)	rs573916965	0.00006
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)	rs397515912	0.00006
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met)	rs371488302	0.00004
NM_000256.3(MYBPC3):c.1243A>C (p.Ile415Leu)	rs1269517446	0.00003
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His)	rs371564200	0.00003
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.3642G>A (p.Trp1214Ter)	rs368765949	0.00001
NM_000256.3(MYBPC3):c.121dup (p.Arg41fs)	rs1248588905
NM_000256.3(MYBPC3):c.1224-19G>A	rs587776699
NM_000256.3(MYBPC3):c.1351+2T>C	rs397515897
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs)	rs397515925
NM_000256.3(MYBPC3):c.1927+600C>T	rs1595845204
NM_000256.3(MYBPC3):c.1999_2000delinsG (p.Leu667fs)	rs727503192
NM_000256.3(MYBPC3):c.2148+1G>T	rs1060499604
NM_000256.3(MYBPC3):c.2432A>G (p.Lys811Arg)	rs1338707268
NM_000256.3(MYBPC3):c.2572A>C (p.Ser858Arg)	rs1595843553
NM_000256.3(MYBPC3):c.2711_2737del (p.Tyr904_Gly912del)	rs2095881732
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.3628-41_3628-17del	rs36212066
NM_000256.3(MYBPC3):c.407-1G>A	rs185449721
NM_000256.3(MYBPC3):c.51dup (p.Ser18fs)	rs1595850762
NM_000256.3(MYBPC3):c.839_840del (p.Gly280fs)
NM_000256.3(MYBPC3):c.884del (p.Phe295fs)	rs730880684

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