List of variants studied for Hypertrophic cardiomyopathy 4 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 17

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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.1484G>A (p.Arg495Gln)	rs200411226	0.00004
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met)	rs121909378	0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)	rs397516074	0.00004
NM_000256.3(MYBPC3):c.927-2A>G	rs397516082	0.00003
NC_000011.10:g.47337730dup	rs397515963	0.00002
NM_000256.3(MYBPC3):c.26-2A>G	rs376395543	0.00002
NM_000256.3(MYBPC3):c.927-9G>A	rs397516083	0.00002
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)	rs397516037	0.00001
NC_000011.10:g.47333236del	rs727503172
NM_000256.3(MYBPC3):c.1084A>G (p.Ser362Gly)	rs730880633
NM_000256.3(MYBPC3):c.1394dup (p.Met466fs)
NM_000256.3(MYBPC3):c.1432_1436delinsGC (p.Ser478_Glu479delinsAla)	rs2142861363
NM_000256.3(MYBPC3):c.1595dup (p.Gln533fs)	rs730880640
NM_000256.3(MYBPC3):c.1898-1G>T
NM_000256.3(MYBPC3):c.2067+1G>A	rs1444727212
NM_000256.3(MYBPC3):c.2459G>C (p.Arg820Pro)	rs2856655

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