ClinVar Miner

List of variants in gene GNPTAB reported as benign

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Gene type:
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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_024312.5(GNPTAB):c.204-236G>A rs222512 0.97158
NM_024312.5(GNPTAB):c.366-233G>A rs6539012 0.67271
NM_024312.5(GNPTAB):c.771+276A>G rs4764816 0.63987
NM_024312.5(GNPTAB):c.772-148T>C rs4403858 0.61207
NM_024312.5(GNPTAB):c.3135+5T>C rs759935 0.60955
NM_024312.5(GNPTAB):c.3434+112C>G rs3736475 0.60946
NM_024312.5(GNPTAB):c.365+145C>T rs2108694 0.60798
NM_024312.5(GNPTAB):c.1932A>G (p.Thr644=) rs10778148 0.58708
NM_024312.5(GNPTAB):c.1285-166G>A rs7963747 0.57958
NM_024312.5(GNPTAB):c.3602+167C>T rs6539011 0.44502
NM_024312.5(GNPTAB):c.3336-25T>C rs3736476 0.30966
NM_024312.5(GNPTAB):c.204-103G>T rs11111024 0.12389
NM_024312.5(GNPTAB):c.3136-257C>T rs11111002 0.11150
NM_024312.5(GNPTAB):c.3602+62A>G rs11110997 0.09704
NM_024312.5(GNPTAB):c.18G>A (p.Leu6=) rs4764655 0.09551
NM_024312.5(GNPTAB):c.365+284G>A rs55764824 0.08093
NM_024312.5(GNPTAB):c.*1195A>C rs112815421 0.07590
NM_024312.5(GNPTAB):c.934-142T>C rs17724970 0.07503
NM_024312.5(GNPTAB):c.3136-295G>A rs12366292 0.06407
NM_024312.5(GNPTAB):c.3694-84A>T rs117751503 0.05791
NM_024312.5(GNPTAB):c.3136-150_3136-149insAG rs111593080 0.05315
NM_024312.5(GNPTAB):c.636+64G>A rs1860088 0.03869
NM_024312.5(GNPTAB):c.*43C>T rs79089208 0.03438
NM_024312.5(GNPTAB):c.*814T>G rs7974637 0.03436
NM_024312.5(GNPTAB):c.*1457A>G rs10219650 0.03091
NM_024312.5(GNPTAB):c.3435-246A>G rs2271641 0.03083
NM_024312.5(GNPTAB):c.3602+8C>A rs79493678 0.02992
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile) rs76889468 0.02262
NM_024312.5(GNPTAB):c.1612+28T>C rs74389509 0.02246
NM_024312.5(GNPTAB):c.3693+10A>T rs76021817 0.02246
NM_024312.5(GNPTAB):c.572-52A>G rs116100586 0.01797
NM_024312.5(GNPTAB):c.1482G>A (p.Gln494=) rs11111008 0.01428
NM_024312.5(GNPTAB):c.204-15G>T rs10860787 0.01423
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709 0.01289
NM_024312.5(GNPTAB):c.*1240T>C rs146119768 0.01250
NM_024312.5(GNPTAB):c.*143G>A rs76267316 0.01208
NM_024312.5(GNPTAB):c.*612T>C rs57261919 0.01208
NM_024312.5(GNPTAB):c.2611G>A (p.Gly871Ser) rs56212569 0.01207
NM_024312.5(GNPTAB):c.1114-17T>C rs112075452 0.01149
NM_024312.5(GNPTAB):c.136C>A (p.Arg46=) rs78347057 0.01017
NM_024312.5(GNPTAB):c.3197C>T (p.Thr1066Met) rs34083392 0.00720
NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln) rs117566084 0.00508
NM_024312.5(GNPTAB):c.1626A>G (p.Glu542=) rs61745799 0.00448
NM_024312.5(GNPTAB):c.1500C>T (p.Asn500=) rs77597686 0.00317
NM_024312.5(GNPTAB):c.571+12T>C rs112056979 0.00227
NM_024312.5(GNPTAB):c.2481C>T (p.Gly827=) rs3751249 0.00083
NM_024312.5(GNPTAB):c.3516T>C (p.Tyr1172=) rs201592854 0.00079
NM_024312.5(GNPTAB):c.1986G>A (p.Ala662=) rs112000802 0.00074
NM_024312.5(GNPTAB):c.323+36A>G rs182910639 0.00070
NM_024312.5(GNPTAB):c.174C>T (p.Asp58=) rs148948607 0.00058
NM_024312.5(GNPTAB):c.3335+13C>T rs187256830 0.00043
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys) rs137853825 0.00043
NM_024312.5(GNPTAB):c.3335+14G>A rs141927805 0.00041
NM_024312.5(GNPTAB):c.1750C>A (p.Pro584Thr) rs201829728 0.00018
NM_024312.5(GNPTAB):c.2028G>A (p.Pro676=) rs192607073 0.00012
NM_024312.5(GNPTAB):c.3335+11C>G rs191087950 0.00012
NM_024312.5(GNPTAB):c.2915+15T>C rs201970402 0.00010
NM_024312.5(GNPTAB):c.2019A>G (p.Lys673=) rs551905649 0.00005
NM_024312.5(GNPTAB):c.513A>G (p.Ala171=) rs371813268 0.00002
NM_024312.5(GNPTAB):c.228C>T (p.Asp76=) rs540190619 0.00001
NM_024312.5(GNPTAB):c.2347G>A (p.Glu783Lys) rs765924360 0.00001
NM_024312.5(GNPTAB):c.2665T>C (p.Leu889=) rs139215843 0.00001
NM_024312.5(GNPTAB):c.-62GGC[7] rs76300806
NM_024312.5(GNPTAB):c.1113+19del
NM_024312.5(GNPTAB):c.1114-14GTT[2] rs758859457
NM_024312.5(GNPTAB):c.1114-19dup
NM_024312.5(GNPTAB):c.1114-20_1114-19del
NM_024312.5(GNPTAB):c.1155A>C (p.Ser385=) rs754258764
NM_024312.5(GNPTAB):c.118-12dup
NM_024312.5(GNPTAB):c.1284+286G>A rs11111014
NM_024312.5(GNPTAB):c.1612+201TGTTT[4] rs145655441
NM_024312.5(GNPTAB):c.1613-25del rs546802775
NM_024312.5(GNPTAB):c.1931_1932inv (p.Thr644Met)
NM_024312.5(GNPTAB):c.203+14del rs755771895
NM_024312.5(GNPTAB):c.27G>A (p.Gln9=) rs222504
NM_024312.5(GNPTAB):c.323+11dup rs546617430
NM_024312.5(GNPTAB):c.323+15_323+16insG
NM_024312.5(GNPTAB):c.323+20del rs546617430
NM_024312.5(GNPTAB):c.365+96_365+97del rs4015837
NM_024312.5(GNPTAB):c.771+7A>C rs375495503
NM_024312.5(GNPTAB):c.934-10dup rs2137124351

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