ClinVar Miner

List of variants reported as pathogenic for cataract 1 multiple types by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_005267.5(GJA8):c.134G>C (p.Trp45Ser) rs864309688 0.00001
NC_000001.10:g.(?_146714354)_(147381384_?)del
NC_000001.10:g.(?_147380063)_(147381404_?)del
NM_005267.5(GJA8):c.130G>A (p.Val44Met)
NM_005267.5(GJA8):c.133T>C (p.Trp45Arg)
NM_005267.5(GJA8):c.134G>T (p.Trp45Leu) rs864309688
NM_005267.5(GJA8):c.135G>T (p.Trp45Cys) rs983216627
NM_005267.5(GJA8):c.136G>A (p.Gly46Arg) rs1553242554
NM_005267.5(GJA8):c.143A>G (p.Glu48Gly) rs2149015418
NM_005267.5(GJA8):c.151G>A (p.Asp51Asn) rs864309703
NM_005267.5(GJA8):c.153C>G (p.Asp51Glu) rs1307969607
NM_005267.5(GJA8):c.176C>T (p.Pro59Leu) rs1651879427
NM_005267.5(GJA8):c.191T>C (p.Val64Ala)
NM_005267.5(GJA8):c.196T>C (p.Tyr66His) rs1571175950
NM_005267.5(GJA8):c.197A>G (p.Tyr66Cys) rs1651881222
NM_005267.5(GJA8):c.20T>C (p.Leu7Pro)
NM_005267.5(GJA8):c.226C>T (p.Arg76Cys) rs1553242577
NM_005267.5(GJA8):c.262C>G (p.Pro88Ala) rs80358200
NM_005267.5(GJA8):c.262C>T (p.Pro88Ser) rs80358200
NM_005267.5(GJA8):c.263C>T (p.Pro88Leu) rs782199122
NM_005267.5(GJA8):c.592C>T (p.Arg198Trp)
NM_005267.5(GJA8):c.593G>A (p.Arg198Gln) rs80358205
NM_005267.5(GJA8):c.595C>T (p.Pro199Ser) rs1651918704
NM_005267.5(GJA8):c.602A>G (p.Glu201Gly) rs1651919374
NM_005267.5(GJA8):c.94T>G (p.Phe32Val)

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