ClinVar Miner

List of variants studied for Pelizaeus-Merzbacher-like disease by Fulgent Genetics, Fulgent Genetics

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.108C>T (p.Ile36=) rs75469429 0.01203
NM_002156.5(HSPD1):c.561T>C (p.Ser187=) rs141357756 0.00155
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr) rs200334298 0.00096
NM_002156.5(HSPD1):c.445G>C (p.Asp149His) rs781225976

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