List of variants reported for Hypertrophic cardiomyopathy by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys)	rs79926414	0.01477
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val)	rs200509948	0.00184
NM_007078.3(LDB3):c.826C>T (p.Arg276Cys)	rs397517226	0.00015
NM_001267550.2(TTN):c.76566_76568dup (p.Arg25523dup)	rs772268958	0.00006
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe)	rs375310569	0.00005
NM_000256.3(MYBPC3):c.927-9G>A	rs397516083	0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)	rs193922390	0.00002
NM_002471.4(MYH6):c.4780C>T (p.Arg1594Trp)	rs545198745	0.00001
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr)	rs397516088
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)	rs121913641
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp)	rs121913632
NM_000258.3(MYL3):c.188G>C (p.Arg63Pro)	rs139354105
NM_002471.4(MYH6):c.1551C>A (p.Asp517Glu)	rs757410478
NM_004415.4(DSP):c.208A>G (p.Thr70Ala)	rs1442496444
NM_005159.5(ACTC1):c.922T>A (p.Tyr308Asn)	rs1566967093
NM_024334.3(TMEM43):c.-6C>T	rs1281893880

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