ClinVar Miner

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

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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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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