List of variants in gene MYBPC3 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)	rs397515912	0.00006
NM_000256.3(MYBPC3):c.1224-19G>A	rs587776699
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg)	rs397515912
NM_000256.3(MYBPC3):c.2635G>T (p.Glu879Ter)	rs1565624607
NM_000256.3(MYBPC3):c.2941C>T (p.Gln981Ter)	rs1282789659
NM_000256.3(MYBPC3):c.3332_3335dup (p.Trp1112Ter)	rs730880337
NM_000256.3(MYBPC3):c.3627G>A (p.Lys1209=)	rs1555120261
NM_000256.3(MYBPC3):c.3729dup (p.Cys1244fs)	rs1177781586
NM_000256.3(MYBPC3):c.653_654insCTGGTGACCC (p.Lys218delinsAsnTrpTer)	rs2095898363

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