List of variants reported as likely pathogenic for Congenital muscular hypertrophy-cerebral syndrome by Genetic Services Laboratory, University of Chicago

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_006306.4(SMC1A):c.1136AAG[2] (p.Glu381del)	rs797045991
NM_006306.4(SMC1A):c.1267C>A (p.Gln423Lys)	rs587784404
NM_006306.4(SMC1A):c.1457A>G (p.Asp486Gly)	rs587784405
NM_006306.4(SMC1A):c.1754T>C (p.Leu585Pro)	rs587784406
NM_006306.4(SMC1A):c.1877G>A (p.Arg626His)	rs587784407
NM_006306.4(SMC1A):c.2046_2048del (p.Glu684del)	rs797045992
NM_006306.4(SMC1A):c.2078G>A (p.Arg693Gln)	rs587784408
NM_006306.4(SMC1A):c.2327T>A (p.Val776Glu)	rs587784410
NM_006306.4(SMC1A):c.3070A>T (p.Asn1024Tyr)	rs587784415
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln)	rs587784416
NM_006306.4(SMC1A):c.3557T>C (p.Val1186Ala)	rs587784419
NM_006306.4(SMC1A):c.421G>A (p.Glu141Lys)	rs587784420

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