ClinVar Miner

Variants in gene GALE with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp) rs137853859 0.00003
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp) rs780517804 0.00002
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047 0.00001
NM_001008216.2(GALE):c.449C>T (p.Thr150Met) rs765353795 0.00001
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp) rs137853860 0.00001
NM_001008216.2(GALE):c.408C>A (p.Tyr136Ter) rs727503943
NM_001008216.2(GALE):c.749del (p.Gly250fs) rs1570630665

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