ClinVar Miner

List of variants in gene GK reported as pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001205019.2(GK):c.259+2T>C rs1057520781
NM_001205019.2(GK):c.514C>T (p.Arg172Ter) rs1057520647
NM_001205019.2(GK):c.851+1G>A rs2147218235
NM_001205019.2(GK):c.907_908insC (p.Asp303fs) rs1085307629

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