List of variants in gene MYBPC3 reported by Clinical Genetics Laboratory, Region Ostergotland

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NC_000011.10:g.47337730dup	rs397515963	0.00002
NM_000256.3(MYBPC3):c.3190+5G>A	rs587782958	0.00002
NM_000256.3(MYBPC3):c.2490dup (p.His831fs)	rs397515966	0.00001
NM_000256.3(MYBPC3):c.3190+2T>G	rs113358486	0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)	rs397516037	0.00001
NM_000256.3(MYBPC3):c.1358dup (p.Val454fs)	rs727503203
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter)	rs397515992
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)	rs730880674
NM_000256.3(MYBPC3):c.506-1G>A	rs397516056
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser)	rs397516070
NM_000256.3(MYBPC3):c.773-1G>C	rs2142865708

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