ClinVar Miner

List of variants in gene NPAT reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_002519.3(NPAT):c.218-9A>G rs529632 0.00520
NM_002519.3(NPAT):c.1506T>G (p.Pro502=) rs61913698 0.00501
NM_002519.3(NPAT):c.3580G>T (p.Gly1194Cys) rs181187590 0.00474
NM_002519.3(NPAT):c.861C>T (p.Asn287=) rs34021883 0.00424
NM_002519.3(NPAT):c.388A>G (p.Thr130Ala) rs187990506 0.00249
NM_002519.3(NPAT):c.3646A>G (p.Asn1216Asp) rs189775078 0.00234
NM_002519.3(NPAT):c.750A>G (p.Arg250=) rs184954520 0.00209
NM_002519.3(NPAT):c.2418T>G (p.Asp806Glu) rs200575398 0.00175
NM_002519.3(NPAT):c.*348A>T rs942472227 0.00086
NM_002519.3(NPAT):c.3453A>G (p.Ser1151=) rs201960944 0.00068
NM_002519.3(NPAT):c.2548A>G (p.Ile850Val) rs140098074 0.00039
NM_002519.3(NPAT):c.1232A>T (p.Glu411Val) rs201010866 0.00038
NM_002519.3(NPAT):c.*1003A>G rs556765145 0.00030
NM_002519.3(NPAT):c.2063C>T (p.Thr688Met) rs199837111 0.00029
NM_002519.3(NPAT):c.3712G>A (p.Ala1238Thr) rs200156065 0.00023
NM_002519.3(NPAT):c.1092T>G (p.Thr364=) rs200595874 0.00015
NM_002519.3(NPAT):c.2785+4A>T rs374585786 0.00015
NM_002519.3(NPAT):c.3674C>T (p.Thr1225Ile) rs201589987 0.00015
NM_002519.3(NPAT):c.*939A>G rs187939321 0.00013
NM_002519.3(NPAT):c.946T>C (p.Leu316=) rs377600506 0.00011
NM_002519.3(NPAT):c.2730A>G (p.Pro910=) rs199839501 0.00009
NM_002519.3(NPAT):c.526A>G (p.Asn176Asp) rs773653115 0.00004
NM_002519.3(NPAT):c.3409C>T (p.Arg1137Trp) rs568463788 0.00003
NM_002519.3(NPAT):c.4209A>G (p.Lys1403=) rs373369834 0.00003
NM_002519.3(NPAT):c.3088A>G (p.Lys1030Glu) rs770282833 0.00002
NM_002519.3(NPAT):c.3143C>T (p.Pro1048Leu) rs1001338894 0.00002
NM_002519.3(NPAT):c.3857T>C (p.Ile1286Thr) rs779276672 0.00002
NM_002519.3(NPAT):c.1541C>T (p.Ser514Leu) rs1591391180 0.00001
NM_002519.3(NPAT):c.1884G>A (p.Ser628=) rs117448150 0.00001
NM_002519.3(NPAT):c.2902-9C>A rs1208509507 0.00001
NM_002519.3(NPAT):c.3346A>G (p.Lys1116Glu) rs370946900 0.00001
NM_002519.3(NPAT):c.*1091G>C rs183226283
NM_002519.3(NPAT):c.*1355CA[1] rs1207478974
NM_002519.3(NPAT):c.*1472_*1478del rs1443063182
NM_002519.3(NPAT):c.*370C>T rs2134813735
NM_002519.3(NPAT):c.*836_*837del rs200169344
NM_002519.3(NPAT):c.1085A>G (p.Asp362Gly) rs2078005237
NM_002519.3(NPAT):c.2172T>C (p.Pro724=) rs1261971124
NM_002519.3(NPAT):c.2238T>A (p.Asp746Glu) rs201541696
NM_002519.3(NPAT):c.2446A>G (p.Thr816Ala) rs34027029
NM_002519.3(NPAT):c.2760A>G (p.Gln920=) rs2134834493
NM_002519.3(NPAT):c.2867A>G (p.Gln956Arg) rs1193920145
NM_002519.3(NPAT):c.2910T>C (p.His970=) rs2134830919
NM_002519.3(NPAT):c.2973T>G (p.Ser991=) rs2134830774
NM_002519.3(NPAT):c.3199G>A (p.Asp1067Asn) rs79119325
NM_002519.3(NPAT):c.364C>G (p.Arg122Gly) rs199851567
NM_002519.3(NPAT):c.3994G>A (p.Ala1332Thr) rs2134817610
NM_002519.3(NPAT):c.4242G>A (p.Met1414Ile) rs2134814344

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