List of variants reported as pathogenic for Hypertrophic cardiomyopathy 4 by Clinical Genetics Laboratory, Region Ostergotland

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NC_000011.10:g.47337730dup	rs397515963	0.00002
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.506-1G>A	rs397516056

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