ClinVar Miner

List of variants in gene CRYGC, LOC100507443 studied for cataract

Included ClinVar conditions (65):
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Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_020989.4(CRYGC):c.357C>T (p.Ser119=) rs61736036 0.01345
NM_020989.4(CRYGC):c.143G>A (p.Arg48His) rs61751949 0.01047
NM_020989.4(CRYGC):c.123C>T (p.Gly41=) rs115828074 0.00612
NM_020989.4(CRYGC):c.317G>A (p.Ser106Asn) rs149859061 0.00366
NM_020989.4(CRYGC):c.10-10T>C rs199901300 0.00136
NM_020989.4(CRYGC):c.271C>T (p.Arg91Trp) rs140120148 0.00116
NM_020989.4(CRYGC):c.256G>T (p.Val86Phe) rs150910237 0.00066
NM_020989.4(CRYGC):c.84G>A (p.Pro28=) rs142890808 0.00034
NM_020989.4(CRYGC):c.120C>T (p.Ser40=) rs184571576 0.00023
NM_020989.4(CRYGC):c.10-14T>C rs367944766 0.00022
NM_020989.4(CRYGC):c.52G>A (p.Glu18Lys) rs145041511 0.00011
NM_020989.4(CRYGC):c.55A>G (p.Thr19Ala) rs546890057 0.00006
NM_020989.4(CRYGC):c.121G>A (p.Gly41Ser) rs559463428 0.00005
NM_020989.4(CRYGC):c.253-7C>T rs754304396 0.00005
NM_020989.4(CRYGC):c.364C>T (p.Arg122Cys) rs368393196 0.00005
NM_020989.4(CRYGC):c.280G>A (p.Glu94Lys) rs200572745 0.00004
NM_020989.4(CRYGC):c.33C>T (p.Ala11=) rs533923837 0.00004
NM_020989.4(CRYGC):c.365G>A (p.Arg122His) rs544008612 0.00004
NM_020989.4(CRYGC):c.502C>T (p.Arg168Trp) rs28931604 0.00004
NM_020989.4(CRYGC):c.258C>T (p.Val86=) rs761447168 0.00003
NM_020989.4(CRYGC):c.145C>A (p.Pro49Thr) rs1351742978 0.00001
NM_020989.4(CRYGC):c.304A>G (p.Met102Val) rs756540358 0.00001
NM_020989.4(CRYGC):c.119_123dup (p.Cys42fs) rs1695062782
NM_020989.4(CRYGC):c.135C>G (p.Leu45=) rs1437464751
NM_020989.4(CRYGC):c.13A>C (p.Thr5Pro) rs104893618
NM_020989.4(CRYGC):c.142C>T (p.Arg48Cys)
NM_020989.4(CRYGC):c.149A>G (p.Asn50Ser)
NM_020989.4(CRYGC):c.155A>C (p.Gln52Pro) rs1553585708
NM_020989.4(CRYGC):c.164A>G (p.Gln55Arg)
NM_020989.4(CRYGC):c.212G>T (p.Gly71Val) rs1574551119
NM_020989.4(CRYGC):c.229C>T (p.Arg77Cys)
NM_020989.4(CRYGC):c.230G>A (p.Arg77His)
NM_020989.4(CRYGC):c.385G>T (p.Gly129Cys) rs137853924
NM_020989.4(CRYGC):c.394del (p.Val132fs) rs2105857937
NM_020989.4(CRYGC):c.402C>G (p.Tyr134Ter) rs200505176
NM_020989.4(CRYGC):c.403G>A (p.Glu135Lys)
NM_020989.4(CRYGC):c.411_417delinsTCGTAGACGGGGCAATACCCTCGTAGACGGGCAATACCTCGTAGACGGGGCAATACCCTCGTAGA (p.Asn138_Tyr139delinsArgArgArgGlyAsnThrLeuValAspGlyGlnTyrLeuValAspGlyAlaIleProSerTer)
NM_020989.4(CRYGC):c.413A>G (p.Asn138Ser)
NM_020989.4(CRYGC):c.418dup (p.Arg140fs) rs2105857887
NM_020989.4(CRYGC):c.423del (p.Arg142fs) rs1553585262
NM_020989.4(CRYGC):c.423dup (p.Arg142fs) rs1553585262
NM_020989.4(CRYGC):c.44G>A (p.Arg15His)
NM_020989.4(CRYGC):c.450G>T (p.Glu150Asp)
NM_020989.4(CRYGC):c.470G>A (p.Trp157Ter) rs398122392
NM_020989.4(CRYGC):c.471G>A (p.Trp157Ter) rs398122944
NM_020989.4(CRYGC):c.475dup (p.Ala159fs)
NM_020989.4(CRYGC):c.497C>T (p.Ser166Phe) rs587778872
NM_020989.4(CRYGC):c.61_63del (p.Thr21del)

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