ClinVar Miner

List of variants in gene CRYGD, LOC100507443 studied for cataract 4 multiple types

Included ClinVar conditions (1):
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_006891.4(CRYGD):c.*12T>C rs2305429 0.92175
NM_006891.4(CRYGD):c.285A>G (p.Arg95=) rs2305430 0.87984
NM_006891.4(CRYGD):c.51T>C (p.Tyr17=) rs2242074 0.59825
NM_006891.4(CRYGD):c.130A>G (p.Met44Val) rs61731517 0.00834
NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter) rs202233735 0.00627
NM_006891.4(CRYGD):c.252+7A>G rs185860020 0.00261
NM_006891.4(CRYGD):c.376G>A (p.Val126Met) rs150318966 0.00220
NM_006891.4(CRYGD):c.63C>T (p.Ser21=) rs150961505 0.00069
NM_006891.4(CRYGD):c.-39C>T rs765407471 0.00051
NM_006891.4(CRYGD):c.264C>G (p.His88Gln) rs75156162 0.00045
NM_006891.4(CRYGD):c.252+10T>A rs200111275 0.00031
NM_006891.4(CRYGD):c.10-7C>G rs189582567 0.00029
NM_006891.4(CRYGD):c.9+15C>T rs368318772 0.00014
NM_006891.4(CRYGD):c.-40C>T rs113618781 0.00013
NM_006891.4(CRYGD):c.499C>T (p.Leu167=) rs774626835 0.00011
NM_006891.4(CRYGD):c.482A>G (p.Asn161Ser) rs760434926 0.00005
NM_006891.4(CRYGD):c.189T>C (p.Tyr63=) rs200911604 0.00004
NM_006891.4(CRYGD):c.238C>T (p.Arg80Cys) rs768608809 0.00004
NM_006891.4(CRYGD):c.-33A>G rs1044458149 0.00003
NM_006891.4(CRYGD):c.192C>G (p.Ala64=) rs766003243 0.00001
NM_006891.4(CRYGD):c.295A>G (p.Arg99Gly) rs886055527 0.00001
NM_006891.4(CRYGD):c.479C>T (p.Thr160Met) rs564197072 0.00001
NM_006891.4(CRYGD):c.109C>A (p.Arg37Ser) rs121909597
NM_006891.4(CRYGD):c.176G>A (p.Arg59His) rs121909596
NM_006891.4(CRYGD):c.233C>T (p.Ser78Phe) rs2105853718
NM_006891.4(CRYGD):c.252C>T (p.His84=) rs775032143
NM_006891.4(CRYGD):c.290A>T (p.Asp97Val)
NM_006891.4(CRYGD):c.333T>C (p.Cys111=) rs933732267
NM_006891.4(CRYGD):c.402C>A (p.Tyr134Ter) rs398122948
NM_006891.4(CRYGD):c.418C>T (p.Arg140Ter) rs1337897299
NM_006891.4(CRYGD):c.43C>T (p.Arg15Cys) rs121909595
NM_006891.4(CRYGD):c.470G>A (p.Trp157Ter) rs121909598
NM_006891.4(CRYGD):c.70C>A (p.Pro24Thr) rs28931605
NM_006891.4(CRYGD):c.70C>T (p.Pro24Ser) rs28931605

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