ClinVar Miner

List of variants in gene PNPT1 reported as benign for not specified

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_033109.5(PNPT1):c.1390C>A (p.Arg464=) rs2627765 0.48848
NM_033109.5(PNPT1):c.1074-19A>G rs782637 0.45197
NM_033109.5(PNPT1):c.361A>G (p.Ile121Val) rs782572 0.44915
NM_033109.5(PNPT1):c.1738+9G>C rs7584120 0.18938
NM_033109.5(PNPT1):c.1768A>G (p.Asn590Asp) rs7594497 0.14820
NM_033109.5(PNPT1):c.1074-15C>T rs76693423 0.03200
NM_033109.5(PNPT1):c.2070-5T>C rs145739483 0.00699
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.906C>T (p.Tyr302=) rs149239772 0.00318
NM_033109.5(PNPT1):c.566-6T>C rs190658831 0.00311
NM_033109.5(PNPT1):c.1074-4A>T rs146742085 0.00287
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.1632C>T (p.Asp544=) rs146554440 0.00083
NM_033109.5(PNPT1):c.1938G>A (p.Thr646=) rs201681772 0.00078
NM_033109.5(PNPT1):c.*11dup rs35916020
NM_033109.5(PNPT1):c.1674+20del rs149526231
NM_033109.5(PNPT1):c.2149-13dup rs532500568
NM_033109.5(PNPT1):c.861T>A (p.Thr287=) rs150220872

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