ClinVar Miner

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

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP gnomAD frequency
NM_033109.5(PNPT1):c.1251G>A (p.Gly417=) rs146111948 0.00507
NM_033109.5(PNPT1):c.944A>G (p.Lys315Arg) rs35405862 0.00492
NM_033109.5(PNPT1):c.852G>C (p.Val284=) rs139091915 0.00259
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) rs146571352 0.00109
NM_033109.5(PNPT1):c.1938G>A (p.Thr646=) rs201681772 0.00078
NM_033109.5(PNPT1):c.161+6G>C rs146068304 0.00056
NM_033109.5(PNPT1):c.223-9A>T rs202243908 0.00054
NM_033109.5(PNPT1):c.1929T>C (p.Asp643=) rs149102879 0.00019
NM_033109.5(PNPT1):c.789A>G (p.Val263=) rs76180666 0.00007
NM_033109.5(PNPT1):c.1725T>C (p.Ile575=) rs574251894 0.00004
NM_033109.5(PNPT1):c.1231G>A (p.Val411Ile) rs551750608
NM_033109.5(PNPT1):c.2043A>G (p.Val681=) rs544405485
NM_033109.5(PNPT1):c.2149-13dup rs532500568
NM_033109.5(PNPT1):c.454-18dup rs1064794498
NM_033109.5(PNPT1):c.739G>T (p.Val247Leu) rs574988767

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