ClinVar Miner

List of variants in gene combination CRYGC, LOC100507443 studied for not provided

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NC_000002.12:g.208129973C>T rs2242071 0.72173
NC_000002.12:g.208130125T>C rs13392731 0.66488
NM_020989.4(CRYGC):c.252+335T>C rs3820906 0.24280
NM_020989.4(CRYGC):c.252+120A>C rs2242073 0.18110
NC_000002.12:g.208128047G>A rs62192855 0.07751
NC_000002.12:g.208127913A>G rs6745872 0.01441
NM_020989.4(CRYGC):c.253-92A>C rs80188786 0.01368
NM_020989.4(CRYGC):c.357C>T (p.Ser119=) rs61736036 0.01345
NM_020989.4(CRYGC):c.252+217A>G rs76717720 0.01186
NM_020989.4(CRYGC):c.252+191C>T rs74855837 0.01175
NM_020989.4(CRYGC):c.143G>A (p.Arg48His) rs61751949 0.01047
NM_020989.4(CRYGC):c.123C>T (p.Gly41=) rs115828074 0.00573
NM_020989.4(CRYGC):c.317G>A (p.Ser106Asn) rs149859061 0.00358
NM_020989.4(CRYGC):c.10-1G>A rs1299475960
NM_020989.4(CRYGC):c.252+135T>C rs74826452
NM_020989.4(CRYGC):c.402C>A (p.Tyr134Ter)
NM_020989.4(CRYGC):c.402C>G (p.Tyr134Ter) rs200505176
NM_020989.4(CRYGC):c.403G>T (p.Glu135Ter) rs750872744
NM_020989.4(CRYGC):c.424C>G (p.Arg142Gly) rs141474796
NM_020989.4(CRYGC):c.424del (p.Arg142fs) rs2105857860
NM_020989.4(CRYGC):c.427C>T (p.Gln143Ter) rs1131691550
NM_020989.4(CRYGC):c.432C>G (p.Tyr144Ter) rs1559320516
NM_020989.4(CRYGC):c.469delinsAG (p.Trp157fs) rs2105857780
NM_020989.4(CRYGC):c.470G>A (p.Trp157Ter) rs398122392
NM_020989.4(CRYGC):c.7_9+1dup

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