ClinVar Miner

List of variants in gene combination CRYGC, LOC100507443 reported as pathogenic for cataract

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_020989.4(CRYGC):c.119_123dup (p.Cys42fs) rs1695062782
NM_020989.4(CRYGC):c.13A>C (p.Thr5Pro) rs104893618
NM_020989.4(CRYGC):c.385G>T (p.Gly129Cys) rs137853924
NM_020989.4(CRYGC):c.394del (p.Val132fs) rs2105857937
NM_020989.4(CRYGC):c.423del (p.Arg142fs) rs1553585262
NM_020989.4(CRYGC):c.423dup (p.Arg142fs) rs1553585262
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.497C>T (p.Ser166Phe) rs587778872

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