ClinVar Miner

List of variants in gene GJC2 studied for primary lymphedema

Included ClinVar conditions (85):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_020435.4(GJC2):c.108C>T (p.Ile36=) rs75469429 0.01203
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr) rs200334298 0.00096
NM_020435.4(GJC2):c.1199C>A (p.Ala400Glu) rs761261049 0.00005
NM_020435.4(GJC2):c.107del (p.Ile36fs) rs1571907430
NM_020435.4(GJC2):c.1162G>C (p.Gly388Arg)
NM_020435.4(GJC2):c.143C>T (p.Ser48Leu) rs267606847
NM_020435.4(GJC2):c.148G>A (p.Glu50Lys) rs1255327063
NM_020435.4(GJC2):c.32G>C (p.Arg11Pro)
NM_020435.4(GJC2):c.373C>G (p.Arg125Gly)
NM_020435.4(GJC2):c.400G>A (p.Gly134Ser)
NM_020435.4(GJC2):c.401del (p.Gly134fs)
NM_020435.4(GJC2):c.436_462del (p.Pro146_Glu154del) rs779077705
NM_020435.4(GJC2):c.512A>C (p.Glu171Ala)
NM_020435.4(GJC2):c.607C>T (p.Arg203Cys)
NM_020435.4(GJC2):c.619G>A (p.Glu207Lys)
NM_020435.4(GJC2):c.778C>T (p.Arg260Cys) rs267606846
NM_020435.4(GJC2):c.914dup (p.Ala306fs)

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