ClinVar Miner

List of variants reported as benign for cataract 21 multiple types by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_005360.5(MAF):c.611G>T (p.Gly204Val) rs867401075 0.01145
NM_005360.5(MAF):c.1179G>A (p.Gln393=) rs149118803 0.00086
NM_005360.5(MAF):c.882G>A (p.Arg294=) rs140303158 0.00061
NM_005360.5(MAF):c.715G>A (p.Ala239Thr) rs561314990 0.00058
NM_005360.5(MAF):c.1028C>T (p.Ala343Val) rs201126542 0.00006
NM_005360.5(MAF):c.456C>T (p.Gly152=) rs1913849090
NM_005360.5(MAF):c.594C>T (p.Gly198=)
NM_005360.5(MAF):c.641G>C (p.Gly214Ala)
NM_005360.5(MAF):c.678CGG[4] (p.Gly235_Gly238del) rs887468453

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