List of variants in gene MYBPC3 reported as pathogenic by Mayo Clinic Laboratories, Mayo Clinic

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)	rs375882485	0.00010
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)	rs121909374	0.00006
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)	rs397516074	0.00004
NM_000256.3(MYBPC3):c.1624+4A>T	rs397515916	0.00003
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)	rs397516037	0.00001
NM_000256.3(MYBPC3):c.1357_1358del (p.Pro453fs)	rs727503203
NM_000256.3(MYBPC3):c.1624+2T>C	rs111437311
NM_000256.3(MYBPC3):c.2096del (p.Pro699fs)	rs397515947
NM_000256.3(MYBPC3):c.2250_2251insTAG (p.Val751Ter)	rs2142856590
NM_000256.3(MYBPC3):c.2308+1G>A	rs112738974
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter)	rs397515982
NM_000256.3(MYBPC3):c.3330+5G>C	rs373746463
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)	rs193922384
NM_000256.3(MYBPC3):c.901A>T (p.Lys301Ter)	rs730880629
NM_000256.3(MYBPC3):c.999C>A (p.Tyr333Ter)	rs367947846
Single allele

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