List of variants in gene GJC2 reported as likely pathogenic for Pelizaeus-Merzbacher-like disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_020435.4(GJC2):c.302G>T (p.Arg101Leu)	rs375288744	0.00006
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.107del (p.Ile36fs)	rs1571907430
NM_020435.4(GJC2):c.1134_1144del (p.Ala379fs)	rs1571908452
NM_020435.4(GJC2):c.1155del (p.Arg386fs)	rs1196278287
NM_020435.4(GJC2):c.1175C>G (p.Ser392Cys)	rs1356633840
NM_020435.4(GJC2):c.118G>C (p.Ala40Pro)	rs1302747902
NM_020435.4(GJC2):c.193_195del (p.Asn65del)	rs1558119525
NM_020435.4(GJC2):c.254T>C (p.Val85Ala)	rs2124966117
NM_020435.4(GJC2):c.371_392dup (p.His132fs)	rs2124966280
NM_020435.4(GJC2):c.49dup (p.His17fs)	rs2034704908
NM_020435.4(GJC2):c.733T>A (p.Cys245Ser)	rs1571908056
NM_020435.4(GJC2):c.755A>G (p.His252Arg)	rs2124966655
NM_020435.4(GJC2):c.78del (p.Trp27fs)	rs886039904
NM_020435.4(GJC2):c.883C>T (p.Gln295Ter)	rs1375875748

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