ClinVar Miner

List of variants reported as uncertain significance 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: 16
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HGVS dbSNP gnomAD frequency
NM_005267.5(GJA8):c.994G>A (p.Glu332Lys) rs143688085 0.00048
NM_005267.5(GJA8):c.1096G>A (p.Val366Met) rs782056871 0.00004
NM_005267.5(GJA8):c.183C>T (p.Cys61=) rs782213276 0.00003
NM_005267.5(GJA8):c.58G>A (p.Val20Ile) rs782298787 0.00002
NM_005267.5(GJA8):c.1069A>G (p.Thr357Ala) rs782584748 0.00001
NM_005267.5(GJA8):c.1163C>T (p.Ser388Leu) rs1453803597 0.00001
NM_005267.5(GJA8):c.1274G>C (p.Arg425Pro) rs150041151 0.00001
NM_005267.5(GJA8):c.1296C>T (p.Thr432=) rs782581406 0.00001
NM_005267.5(GJA8):c.665T>C (p.Met222Thr) rs782579752 0.00001
NM_005267.5(GJA8):c.-11-4T>G rs1651864498
NM_005267.5(GJA8):c.-43A>G rs1651656949
NM_005267.5(GJA8):c.285C>T (p.His95=) rs886045253
NM_005267.5(GJA8):c.300C>T (p.Val100=) rs886045254
NM_005267.5(GJA8):c.670T>C (p.Leu224=) rs782211254
NM_005267.5(GJA8):c.678C>A (p.His226Gln) rs201476382
NM_005267.5(GJA8):c.875T>C (p.Leu292Pro) rs886045255

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