ClinVar Miner

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

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Total variants: 16
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HGVS dbSNP
NC_000023.10:g.(?_53430478)_(53432101_?)del
NC_000023.10:g.(?_53448825)_(53449569_?)del
NM_001281463.1(SMC1A):c.1127G>A (p.Arg376Gln) rs587784403
NM_001281463.1(SMC1A):c.2065C>T (p.Arg689Trp) rs587784409
NM_001281463.1(SMC1A):c.2302C>T (p.Arg768Trp) rs587784412
NM_001281463.1(SMC1A):c.2303G>A (p.Arg768Gln) rs797045993
NM_001281463.1(SMC1A):c.3037C>T (p.Arg1013Ter) rs1556886124
NM_001281463.1(SMC1A):c.3085C>T (p.Arg1029Ter) rs1569351907
NM_001281463.1(SMC1A):c.3131G>A (p.Arg1044His) rs1556886034
NM_001281463.1(SMC1A):c.521G>A (p.Arg174His) rs1556890815
NM_006306.4(SMC1A):c.1299del (p.Lys433fs) rs1602411858
NM_006306.4(SMC1A):c.2161C>T (p.Gln721Ter)
NM_006306.4(SMC1A):c.2872dup (p.Gln958fs) rs1602404847
NM_006306.4(SMC1A):c.3249dup (p.Ile1084fs)
NM_006306.4(SMC1A):c.392del (p.Arg131fs)
NM_006306.4(SMC1A):c.397T>G (p.Phe133Val)

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