ClinVar Miner

Variants in gene PNPT1 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 17
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HGVS dbSNP gnomAD frequency
NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln) rs34928857 0.00131
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) rs146571352 0.00109
NM_033109.5(PNPT1):c.1099C>T (p.Leu367Phe) rs142840568 0.00029
NM_033109.5(PNPT1):c.1795T>A (p.Ser599Thr) rs147375807 0.00026
NM_033109.5(PNPT1):c.2148+6A>T rs374690825 0.00018
NM_033109.5(PNPT1):c.1619A>G (p.Asn540Ser) rs202190573 0.00010
NM_033109.5(PNPT1):c.40C>T (p.Arg14Trp) rs199712282 0.00010
NM_033109.5(PNPT1):c.516C>T (p.Gly172=) rs372627112 0.00009
NM_033109.5(PNPT1):c.1771A>C (p.Lys591Gln) rs542676905 0.00008
NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser) rs151166046 0.00006
NM_033109.5(PNPT1):c.667A>G (p.Lys223Glu) rs752759589 0.00006
NM_033109.5(PNPT1):c.1566T>A (p.Gly522=) rs754237697 0.00003
NM_033109.5(PNPT1):c.1923G>A (p.Gln641=) rs779794474 0.00001
NM_033109.5(PNPT1):c.2213G>A (p.Arg738His) rs574670461 0.00001
NM_033109.5(PNPT1):c.1231G>A (p.Val411Ile) rs551750608
NM_033109.5(PNPT1):c.1563G>A (p.Lys521=) rs863224169

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