List of variants reported as likely pathogenic for Congenital muscular hypertrophy-cerebral syndrome by Invitae

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_006306.4(SMC1A):c.1486C>T (p.Arg496Cys)	rs2075701790
NM_006306.4(SMC1A):c.1546-2A>C
NM_006306.4(SMC1A):c.1694G>A (p.Gly565Glu)	rs2146600012
NM_006306.4(SMC1A):c.1714C>T (p.Pro572Ser)
NM_006306.4(SMC1A):c.2314-2A>G	rs1602409271
NM_006306.4(SMC1A):c.2314-2A>T	rs1602409271
NM_006306.4(SMC1A):c.2314-7_2314-3del	rs2146598341
NM_006306.4(SMC1A):c.2320G>T (p.Asp774Tyr)	rs2075680329
NM_006306.4(SMC1A):c.3056_3082delinsTGCAG (p.Arg1019fs)	rs1556886127
NM_006306.4(SMC1A):c.3254A>G (p.Tyr1085Cys)	rs587784418
NM_006306.4(SMC1A):c.3344G>A (p.Cys1115Tyr)	rs2146582443
NM_006306.4(SMC1A):c.3344G>T (p.Cys1115Phe)	rs2146582443
NM_006306.4(SMC1A):c.3437+1G>A	rs2146582412
NM_006306.4(SMC1A):c.3461T>A (p.Val1154Asp)	rs1569351534
NM_006306.4(SMC1A):c.3497A>G (p.Asn1166Ser)	rs1556885810
NM_006306.4(SMC1A):c.3508-2A>G	rs2146581345
NM_006306.4(SMC1A):c.3652_3663del (p.Phe1218_Thr1221del)	rs1569351341
NM_006306.4(SMC1A):c.855-1G>A

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