ClinVar Miner

List of variants reported as benign for cataract 1 multiple types by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_005267.5(GJA8):c.804C>T (p.Leu268=) rs3766503 0.04698
NM_005267.5(GJA8):c.893A>G (p.Asn298Ser) rs142376567 0.00163
NM_005267.5(GJA8):c.385G>A (p.Val129Ile) rs142415337 0.00070
NM_005267.5(GJA8):c.439C>T (p.Leu147=) rs145974798 0.00036
NM_005267.5(GJA8):c.1157C>T (p.Pro386Leu) rs149146673 0.00019
NM_005267.5(GJA8):c.1045A>G (p.Lys349Glu) rs782505421 0.00006
NM_005267.5(GJA8):c.356G>A (p.Gly119Glu) rs200587705 0.00004
NM_005267.4(GJA8):c.*26dup rs34123490
NM_005267.5(GJA8):c.1102G>C (p.Glu368Gln) rs587673409
NM_005267.5(GJA8):c.1105G>T (p.Gly369Trp) rs781881392

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