ClinVar Miner

List of variants reported as likely pathogenic for Pelizaeus-Merzbacher-like disease by Molecular Diagnostics Lab, Nemours Children's Health, Delaware

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_020435.4(GJC2):c.203A>G (p.Tyr68Cys) rs1031720654 0.00005
NM_020435.4(GJC2):c.217C>A (p.Pro73Thr) rs1330596542 0.00002
NM_020435.4(GJC2):c.127G>A (p.Gly43Ser) rs761544365 0.00001
NM_020435.4(GJC2):c.268C>T (p.Pro90Ser) rs74315312 0.00001
NC_000001.11:g.228149857A>G rs587777496
NC_000001.11:g.228149860A>G rs587776888
NM_020435.4(GJC2):c.1134_1144del (p.Ala379fs) rs1571908452
NM_020435.4(GJC2):c.196_201del (p.Val66_Cys67del)
NM_020435.4(GJC2):c.310del (p.Arg104fs) rs1064793505
NM_020435.4(GJC2):c.357dup (p.Pro120fs)
NM_020435.4(GJC2):c.371_392dup (p.His132fs) rs2124966280
NM_020435.4(GJC2):c.575del (p.Pro192fs) rs1064795865
NM_020435.4(GJC2):c.693G>T (p.Gln231His)
NM_020435.4(GJC2):c.740G>C (p.Arg247Pro) rs1057523988
NM_020435.4(GJC2):c.755A>G (p.His252Arg) rs2124966655
NM_020435.4(GJC2):c.893_942del (p.Val298fs)
NM_020435.4(GJC2):c.907_923dup (p.Pro309fs)
NM_020435.4(GJC2):c.916_928dup (p.Ala310fs)
NM_020435.4(GJC2):c.979_983dup (p.Cys329fs)
NM_020435.4(GJC2):c.99del (p.Phe34fs)

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