ClinVar Miner

List of variants in gene CRYBA1 studied for cataract

Included ClinVar conditions (65):
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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_005208.5(CRYBA1):c.456C>T (p.Gly152=) rs1047790 0.22069
NM_005208.5(CRYBA1):c.215+16C>T rs72819448 0.04171
NM_005208.5(CRYBA1):c.74C>T (p.Pro25Leu) rs142631461 0.01935
NM_005208.5(CRYBA1):c.89C>T (p.Pro30Leu) rs144800101 0.00236
NM_005208.5(CRYBA1):c.475G>A (p.Gly159Ser) rs117757092 0.00232
NM_005208.5(CRYBA1):c.97-8C>T rs376499974 0.00134
NM_005208.5(CRYBA1):c.75G>A (p.Pro25=) rs368469355 0.00044
NM_005208.5(CRYBA1):c.555T>C (p.Cys185=) rs145678386 0.00043
NM_005208.5(CRYBA1):c.464A>G (p.Asn155Ser) rs140057151 0.00024
NM_005208.5(CRYBA1):c.97-20G>A rs201548192 0.00004
NM_005208.5(CRYBA1):c.500+1G>A rs775038545 0.00003
NM_005208.5(CRYBA1):c.548T>C (p.Leu183Ser) rs773038726 0.00003
NM_005208.5(CRYBA1):c.471A>G (p.Glu157=) rs755489260 0.00002
NM_005208.5(CRYBA1):c.215+1G>A rs1264025914 0.00001
NM_005208.5(CRYBA1):c.344C>T (p.Pro115Leu) rs745991398 0.00001
NM_005208.5(CRYBA1):c.357+7C>T rs1473744071 0.00001
NM_005208.5(CRYBA1):c.465C>A (p.Asn155Lys) rs1380012052 0.00001
NM_005208.5(CRYBA1):c.500+17G>A rs761853246 0.00001
NC_000017.10:g.(?_27579473)_(27581294_?)del
NM_005208.5(CRYBA1):c.101C>T (p.Thr34Ile)
NM_005208.5(CRYBA1):c.173G>A (p.Arg58His) rs147994059
NM_005208.5(CRYBA1):c.197T>G (p.Leu66Arg) rs2068927678
NM_005208.5(CRYBA1):c.215+1G>C rs1264025914
NM_005208.5(CRYBA1):c.215+1G>T rs1264025914
NM_005208.5(CRYBA1):c.215+5G>A
NM_005208.5(CRYBA1):c.258del (p.Phe86fs) rs745555171
NM_005208.5(CRYBA1):c.269GAG[1] (p.Gly91del) rs1064797219
NM_005208.5(CRYBA1):c.279C>A (p.Tyr93Ter)
NM_005208.5(CRYBA1):c.309T>C (p.Asn103=) rs759439567
NM_005208.5(CRYBA1):c.31+7A>G rs757547144
NM_005208.5(CRYBA1):c.310G>A (p.Ala104Thr)
NM_005208.5(CRYBA1):c.346A>G (p.Ile116Val)
NM_005208.5(CRYBA1):c.358-11C>G
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>C rs775038545
NM_005208.5(CRYBA1):c.500+1G>T rs775038545
NM_005208.5(CRYBA1):c.501-2_522del
NM_005208.5(CRYBA1):c.530_538del (p.Arg177_Tyr179del) rs1555547008
NM_005208.5(CRYBA1):c.548T>A (p.Leu183Ter) rs773038726
NM_005208.5(CRYBA1):c.590_591del (p.Glu197fs) rs786205628
NM_005208.5(CRYBA1):c.607_608del (p.Gln203fs) rs1567671947
NM_005208.5(CRYBA1):c.626C>G (p.Ser209Trp) rs2153009764

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