ClinVar Miner

Variants in gene PNPT1 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: 5
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HGVS dbSNP gnomAD frequency
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_033109.5(PNPT1):c.1382T>C (p.Val461Ala) rs752666494 0.00003
NM_033109.5(PNPT1):c.575G>A (p.Arg192Gln) rs772153760 0.00002
NM_033109.5(PNPT1):c.337C>T (p.Pro113Ser) rs930190521 0.00001
NM_033109.5(PNPT1):c.517G>A (p.Ala173Thr) rs774425075 0.00001

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