ClinVar Miner

List of variants studied for Pelizaeus-Merzbacher-like disease by Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_020435.4(GJC2):c.118G>C (p.Ala40Pro) rs1302747902
NM_020435.4(GJC2):c.575dup (p.Thr195fs) rs1064795865
NM_020435.4(GJC2):c.733T>A (p.Cys245Ser) rs1571908056
NM_020435.4(GJC2):c.883C>T (p.Gln295Ter) rs1375875748

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