ClinVar Miner

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

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP
NM_000489.5(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.5(ATRX):c.6149T>C (p.Ile2050Thr) rs122445110
NM_000489.5(ATRX):c.6254G>A (p.Arg2085His) rs1057517948
NM_000489.5(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.6(ATRX):c.7366_7367del (p.Met2456fs) rs797044723

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