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
NM_001281463.1(SMC1A):c.1070_1072AAG[2] (p.Glu359del)	rs797045991
NM_001281463.1(SMC1A):c.1201C>A (p.Gln401Lys)	rs587784404
NM_001281463.1(SMC1A):c.1391A>G (p.Asp464Gly)	rs587784405
NM_001281463.1(SMC1A):c.1688T>C (p.Leu563Pro)	rs587784406
NM_001281463.1(SMC1A):c.1811G>A (p.Arg604His)	rs587784407
NM_001281463.1(SMC1A):c.1980_1982del (p.Glu662del)	rs797045992
NM_001281463.1(SMC1A):c.2012G>A (p.Arg671Gln)	rs587784408
NM_001281463.1(SMC1A):c.2261T>A (p.Val754Glu)	rs587784410
NM_001281463.1(SMC1A):c.3004A>T (p.Asn1002Tyr)	rs587784415
NM_001281463.1(SMC1A):c.3080G>A (p.Arg1027Gln)	rs587784416
NM_001281463.1(SMC1A):c.3491T>C (p.Val1164Ala)	rs587784419
NM_001281463.1(SMC1A):c.355G>A (p.Glu119Lys)	rs587784420

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