ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_005360.5(MAF):c.433G>A (p.Gly145Ser) rs550438083 0.00072
NM_005360.5(MAF):c.1110G>C (p.Glu370Asp) rs775799498 0.00001
NM_005360.5(MAF):c.260A>C (p.His87Pro)
NM_005360.5(MAF):c.293C>A (p.Pro98Gln) rs878873480
NM_005360.5(MAF):c.468G>C (p.Glu156Asp)
NM_005360.5(MAF):c.490_501del (p.Val164_Val167del)
NM_005360.5(MAF):c.592G>A (p.Gly198Ser)
NM_005360.5(MAF):c.644G>A (p.Gly215Asp)
NM_005360.5(MAF):c.655G>A (p.Gly219Ser)
NM_005360.5(MAF):c.678CGG[11] (p.Gly238_Ala239insGlyGlyGly)
NM_005360.5(MAF):c.678CGG[9] (p.Gly238dup) rs887468453
NM_005360.5(MAF):c.768C>G (p.His256Gln) rs1555529827
NM_005360.5(MAF):c.797T>G (p.Leu266Arg) rs2143802492
NM_005360.5(MAF):c.823_834del (p.Asn275_Leu278del)
NM_005360.5(MAF):c.866T>A (p.Leu289Gln)
NM_005360.5(MAF):c.892A>C (p.Asn298His)
NM_005360.5(MAF):c.894C>A (p.Asn298Lys)
NM_005360.5(MAF):c.902A>G (p.Tyr301Cys)
NM_005360.5(MAF):c.905C>A (p.Ala302Asp) rs1481963503
NM_005360.5(MAF):c.914G>A (p.Cys305Tyr) rs1913782042
NM_005360.5(MAF):c.916C>G (p.Arg306Gly) rs1913781557
NM_005360.5(MAF):c.922A>G (p.Lys308Glu)
NM_005360.5(MAF):c.935A>G (p.Gln312Arg)

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