ClinVar Miner

List of variants in gene PNPT1 studied for not specified

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Gene type:
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Total variants: 44
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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.2149-18T>A rs142979302 0.00042
NM_033109.5(PNPT1):c.1248-16T>C rs374813287 0.00041
NM_033109.5(PNPT1):c.2149-11T>G rs138300494 0.00036
NM_033109.5(PNPT1):c.2149-19T>C rs370060385 0.00009
NM_033109.5(PNPT1):c.516C>T (p.Gly172=) rs372627112 0.00009
NM_033109.5(PNPT1):c.2014-19G>C rs745401550 0.00003
NM_033109.5(PNPT1):c.1074-12A>G rs374508862 0.00002
NM_033109.5(PNPT1):c.1284+10A>C rs780025637 0.00002
NM_033109.5(PNPT1):c.1442-4A>G rs1027454741 0.00002
NM_033109.5(PNPT1):c.251C>T (p.Ala84Val) rs145552327 0.00002
NM_033109.5(PNPT1):c.680-10C>T rs1553499878 0.00002
NM_033109.5(PNPT1):c.423C>T (p.Leu141=) rs777911727 0.00001
NM_033109.5(PNPT1):c.977-4A>G rs778656630 0.00001
NM_033109.4(PNPT1):c.-48G>A rs747523552
NM_033109.5(PNPT1):c.*11dup rs35916020
NM_033109.5(PNPT1):c.1068C>G (p.Tyr356Ter) rs879255427
NM_033109.5(PNPT1):c.1176+7T>C rs1057522265
NM_033109.5(PNPT1):c.1674+20del rs149526231
NM_033109.5(PNPT1):c.1906+10delinsCAT rs1064795243
NM_033109.5(PNPT1):c.2070-16A>C rs768971285
NM_033109.5(PNPT1):c.2148+8G>C
NM_033109.5(PNPT1):c.2149-13dup rs532500568
NM_033109.5(PNPT1):c.223-13C>G rs200156764
NM_033109.5(PNPT1):c.404-10C>A rs1057522292
NM_033109.5(PNPT1):c.404-5G>T rs1156874425
NM_033109.5(PNPT1):c.429A>G (p.Pro143=) rs758544175
NM_033109.5(PNPT1):c.454-18dup rs1064794498
NM_033109.5(PNPT1):c.861T>A (p.Thr287=) rs150220872

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