ClinVar Miner

List of variants reported as uncertain significance for cataract 10 multiple types

Included ClinVar conditions (1):
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_005208.5(CRYBA1):c.475G>A (p.Gly159Ser) rs117757092 0.00232
NM_005208.5(CRYBA1):c.548T>C (p.Leu183Ser) rs773038726 0.00003
NM_005208.5(CRYBA1):c.344C>T (p.Pro115Leu) rs745991398 0.00001
NM_005208.5(CRYBA1):c.465C>A (p.Asn155Lys) rs1380012052 0.00001
NC_000017.10:g.(?_27579473)_(27581294_?)del
NM_005208.5(CRYBA1):c.101C>T (p.Thr34Ile)
NM_005208.5(CRYBA1):c.197T>G (p.Leu66Arg) rs2068927678
NM_005208.5(CRYBA1):c.215+5G>A
NM_005208.5(CRYBA1):c.310G>A (p.Ala104Thr)
NM_005208.5(CRYBA1):c.367G>A (p.Glu123Lys) rs2068949378
NM_005208.5(CRYBA1):c.490_491del (p.Gln164fs) rs2153009713
NM_005208.5(CRYBA1):c.500+1G>T rs775038545
NM_005208.5(CRYBA1):c.548T>A (p.Leu183Ter) rs773038726
NM_005208.5(CRYBA1):c.590_591del (p.Glu197fs) rs786205628

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