List of variants studied for Charcot-Marie-Tooth disease by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 12

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HGVS	dbSNP
NM_001376.5(DYNC1H1):c.11806G>A (p.Val3936Met)	rs780676515
NM_001376.5(DYNC1H1):c.12084C>G (p.Thr4028=)	rs1446298826
NM_001376.5(DYNC1H1):c.12192G>A (p.Thr4064=)	rs114906811
NM_001376.5(DYNC1H1):c.13483G>A (p.Ala4495Thr)	rs1567026040
NM_001376.5(DYNC1H1):c.13497T>C (p.Gly4499=)	rs1555412704
NM_001376.5(DYNC1H1):c.13873G>A (p.Glu4625Lys)	rs200149883
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=)	rs35092963
NM_001376.5(DYNC1H1):c.3073C>T (p.Arg1025Trp)	rs777387819
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=)	rs140841480
NM_001376.5(DYNC1H1):c.915A>G (p.Lys305=)	rs1566996726
NM_152296.5(ATP1A3):c.1176C>T (p.Thr392=)	rs1353417724
NM_152296.5(ATP1A3):c.1192+7G>A	rs374826826

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