List of variants reported as likely benign for Primary familial hypertrophic cardiomyopathy by Blueprint Genetics

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Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met)	rs35078470	0.00601
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln)	rs34580776	0.00376
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)	rs151024019	0.00138
NM_032588.4(TRIM63):c.143C>T (p.Ala48Val)	rs140523053	0.00128
NM_004517.4(ILK):c.631C>T (p.Arg211Cys)	rs140322345	0.00121
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His)	rs187705120	0.00106
NM_003803.4(MYOM1):c.4376T>A (p.Ile1459Lys)	rs730880167	0.00061
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser)	rs34239595	0.00055
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val)	rs72646855	0.00054
NM_001267550.2(TTN):c.21404-4A>G	rs72648965	0.00051
NM_002471.4(MYH6):c.643-5C>T	rs199859986	0.00041
NM_000256.3(MYBPC3):c.2149-5C>T	rs36211722	0.00014
NM_002471.4(MYH6):c.3893C>T (p.Ala1298Val)	rs368588052	0.00012
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn)	rs150194093	0.00004
NM_005633.4(SOS1):c.3703C>T (p.Pro1235Ser)	rs397517168	0.00003
NM_000257.4(MYH7):c.1856C>T (p.Thr619Ile)	rs541143322	0.00002
NM_001267550.2(TTN):c.64072G>A (p.Val21358Met)	rs371725212	0.00002
NM_001276345.2(TNNT2):c.136G>C (p.Ala46Pro)	rs397516447	0.00001
NM_007078.3(LDB3):c.172G>A (p.Asp58Asn)	rs730880127	0.00001
NM_024334.3(TMEM43):c.658C>T (p.Arg220Cys)	rs562700595	0.00001
NM_032578.4(MYPN):c.3697A>T (p.Ile1233Phe)	rs587782969	0.00001
NM_001134363.3(RBM20):c.1880+4_1880+6dup	rs397516597
NM_001267550.2(TTN):c.15500C>A (p.Pro5167His)	rs730880237
NM_004415.4(DSP):c.5441G>A (p.Ser1814Asn)	rs730880085
NM_005159.5(ACTC1):c.272C>A (p.Thr91Asn)	rs730880037

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