ClinVar Miner

Variants in gene GALK1 with conflicting interpretations "likely pathogenic" and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser) rs375690568 0.00007
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser) rs754967473 0.00004
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576 0.00003
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637 0.00002
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys) rs1363497653 0.00001
NM_000154.2(GALK1):c.841G>A (p.Val281Met) rs753571180 0.00001
NM_000154.2(GALK1):c.919_921del (p.Met307del) rs1247635972 0.00001
NM_000154.2(GALK1):c.130C>T (p.His44Tyr) rs1555748926

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