ClinVar Miner

List of variants in gene XDH reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 136
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HGVS dbSNP gnomAD frequency
NM_000379.4(XDH):c.3352-141A>G rs566224 0.99107
NM_000379.4(XDH):c.3404+307G>T rs207451 0.96349
NM_000379.4(XDH):c.3404+252A>C rs207452 0.96105
NM_000379.4(XDH):c.1602+306T>C rs28469567 0.78045
NM_000379.4(XDH):c.3351+164T>C rs7599175 0.77436
NM_000379.4(XDH):c.3030T>C (p.Phe1010=) rs1884725 0.77423
NM_000379.4(XDH):c.3148-173C>T rs4952085 0.77329
NM_000379.4(XDH):c.3148-115T>C rs4952084 0.77279
NM_000379.4(XDH):c.3148-110G>A rs4952083 0.77257
NM_000379.4(XDH):c.3351+261G>C rs7572658 0.75456
NM_000379.4(XDH):c.3276+12A>G rs1366813 0.75380
NM_000379.4(XDH):c.3276+319T>C rs1366811 0.75371
NM_000379.4(XDH):c.3052-12C>G rs13415401 0.74590
NM_000379.4(XDH):c.2632-257T>C rs11680208 0.74284
NM_000379.4(XDH):c.1243-43A>G rs10187719 0.73983
NM_000379.4(XDH):c.2198-296T>C rs732436 0.68993
NM_000379.4(XDH):c.3276+273C>G rs1366812 0.60109
NM_000379.4(XDH):c.2969+154T>C rs1429374 0.58318
NM_000379.4(XDH):c.1602+252A>G rs207401 0.50560
NC_000002.12:g.31415003C>T rs206812 0.49449
NM_000379.4(XDH):c.1038+252T>C rs1864280 0.49109
NM_000379.4(XDH):c.1603-141A>G rs4952087 0.48663
NM_000379.4(XDH):c.1603-133C>T rs4952086 0.48637
NM_000379.4(XDH):c.1427+220G>A rs4952089 0.47705
NM_000379.4(XDH):c.1980+326G>A rs2070293 0.45339
NM_000379.4(XDH):c.564+64C>T rs2073316 0.42416
NM_000379.4(XDH):c.3952-221C>G rs2268800 0.41472
NM_000379.4(XDH):c.1133-292T>C rs2163059 0.40149
NM_000379.4(XDH):c.3405-197G>A rs12614330 0.38259
NM_000379.4(XDH):c.2197+201C>G rs2281549 0.35248
NM_000379.4(XDH):c.2322+82A>G rs13387204 0.33837
NM_000379.4(XDH):c.2197+282T>C rs2281548 0.32175
NM_000379.4(XDH):c.1687-161A>G rs10171290 0.31682
NM_000379.4(XDH):c.2322+322A>G rs743163 0.30470
NM_000379.4(XDH):c.2457-167T>C rs17011356 0.30440
NM_000379.4(XDH):c.2197+68G>A rs2281550 0.30353
NM_000379.4(XDH):c.1686+220C>T rs4549138 0.29849
NM_000379.4(XDH):c.1428-65A>G rs2070294 0.26635
NM_000379.4(XDH):c.2456+178G>A rs12621192 0.25617
NM_000379.4(XDH):c.2211C>T (p.Ile737=) rs2295475 0.24290
NM_000379.4(XDH):c.2197+42G>C rs761926 0.24019
NM_000379.4(XDH):c.3405-153G>A rs35235275 0.23688
NM_000379.4(XDH):c.43-200T>G rs206803 0.17635
NM_000379.4(XDH):c.43-125G>C rs206802 0.16938
NM_000379.4(XDH):c.3352-30A>C rs207454 0.16335
NM_000379.4(XDH):c.1856+305T>G rs13398137 0.15216
NM_000379.4(XDH):c.307-33A>G rs10175754 0.15079
NM_000379.4(XDH):c.101-35C>G rs1346644 0.13718
NM_000379.4(XDH):c.100+68A>C rs1366814 0.11660
NM_000379.4(XDH):c.1980+266A>G rs45445692 0.10222
NM_000379.4(XDH):c.3277-214C>T rs13409029 0.09029
NM_000379.4(XDH):c.2824-35G>A rs13419410 0.08190
NM_000379.4(XDH):c.1980+96A>G rs10181969 0.07357
NM_000379.4(XDH):c.100+27C>T rs206801 0.06453
NM_000379.4(XDH):c.306+276A>G rs6714794 0.05757
NM_000379.4(XDH):c.2107A>G (p.Ile703Val) rs17011368 0.05740
NM_000379.4(XDH):c.3717G>A (p.Glu1239=) rs207440 0.05236
NM_000379.4(XDH):c.101-84G>T rs206797 0.05115
NM_000379.4(XDH):c.42+238C>T rs45451795 0.04475
NM_000379.4(XDH):c.793+235A>T rs473935 0.04388
NM_000379.4(XDH):c.1133-222C>T rs45488000 0.03579
NM_000379.4(XDH):c.*41G>C rs45593434 0.03354
NM_000379.4(XDH):c.2544+103A>G rs45467192 0.03353
NM_000379.4(XDH):c.2197+211C>T rs45462299 0.03336
NM_000379.4(XDH):c.496-52C>T rs45501994 0.03328
NM_000379.4(XDH):c.1132+53T>C rs45552841 0.02926
NM_000379.4(XDH):c.2197+130C>T rs17011365 0.02779
NM_000379.4(XDH):c.627G>A (p.Glu209=) rs45575032 0.02778
NM_000379.4(XDH):c.1427+70C>G rs10172747 0.02692
NM_000379.4(XDH):c.837C>T (p.Val279=) rs4407290 0.02692
NM_000379.4(XDH):c.1980+139A>G rs45505593 0.02434
NM_000379.4(XDH):c.1857-160T>C rs45473792 0.02429
NM_000379.4(XDH):c.3520-45A>G rs35059671 0.02355
NM_000379.4(XDH):c.1980+245G>A rs45620735 0.02335
NM_000379.4(XDH):c.514G>A (p.Gly172Arg) rs45523133 0.02328
NM_000379.4(XDH):c.2198-238T>C rs17011359 0.02269
NM_000379.4(XDH):c.1687-311T>C rs45532634 0.02254
NM_000379.4(XDH):c.3775-268T>C rs45505391 0.02249
NM_000379.4(XDH):c.1936A>G (p.Ile646Val) rs17323225 0.02243
NM_000379.4(XDH):c.1981-235A>G rs17395161 0.02240
NM_000379.4(XDH):c.1687-132C>T rs45443498 0.02231
NM_000379.4(XDH):c.1686+8C>T rs17395224 0.02225
NM_000379.4(XDH):c.2970-38A>G rs45465405 0.02197
NM_000379.4(XDH):c.1184A>T (p.Lys395Met) rs34929837 0.02155
NM_000379.4(XDH):c.886+196G>A rs45462793 0.02134
NM_000379.4(XDH):c.1134C>T (p.Gly378=) rs45612738 0.02057
NM_000379.4(XDH):c.3147+107G>A rs45452492 0.02029
NM_000379.4(XDH):c.3277-38G>A rs45511600 0.02018
NM_000379.4(XDH):c.3405-276T>A rs45471493 0.01956
NM_000379.4(XDH):c.3084C>T (p.Gly1028=) rs45604135 0.01858
NM_000379.4(XDH):c.2323-226A>G rs45472693 0.01844
NM_000379.4(XDH):c.2631+163C>T rs45506497 0.01844
NM_000379.4(XDH):c.1133-253T>C rs45601433 0.01802
NM_000379.4(XDH):c.1039-180T>C rs45550432 0.01616
NM_000379.4(XDH):c.1509C>G (p.Gly503=) rs45612839 0.01566
NM_000379.4(XDH):c.1329G>A (p.Lys443=) rs45471294 0.01418
NM_000379.4(XDH):c.3147+70A>G rs45579134 0.01286
NM_000379.4(XDH):c.3774+32C>G rs45591431 0.01243
NM_000379.4(XDH):c.3886C>T (p.Arg1296Trp) rs45564939 0.01229
NM_000379.4(XDH):c.495+236G>A rs112666152 0.01185
NM_000379.4(XDH):c.1039-252A>G rs45454494 0.01138
NM_000379.4(XDH):c.1602+124T>C rs78634201 0.01060
NM_000379.4(XDH):c.1856+219C>T rs45599238 0.00969
NC_000002.12:g.31414807G>C rs45548140 0.00779
NM_000379.4(XDH):c.564+39T>A rs45519736 0.00768
NM_000379.4(XDH):c.1039-134G>A rs45514500 0.00625
NM_000379.4(XDH):c.793+273T>G rs181094445 0.00608
NM_000379.4(XDH):c.2634T>C (p.Ile878=) rs146994573 0.00224
NM_000379.4(XDH):c.3536T>C (p.Ile1179Thr) rs139515054 0.00222
NM_000379.4(XDH):c.882C>T (p.Pro294=) rs138246330 0.00195
NM_000379.4(XDH):c.1686+1G>C rs148412639 0.00057
NM_000379.4(XDH):c.3847C>T (p.Arg1283Ter) rs751921838 0.00001
GRCh38/hg38 2p23.1(chr2:31327058-31353154)x3
NM_000379.4(XDH):c.1243-132G>A rs113335263
NM_000379.4(XDH):c.1427+266_1427+274dup rs45600638
NM_000379.4(XDH):c.1603-210G>T rs12712316
NM_000379.4(XDH):c.1630G>A (p.Ala544Thr)
NM_000379.4(XDH):c.2100+19_2100+22del rs45446491
NM_000379.4(XDH):c.2457-151T>G rs1429376
NM_000379.4(XDH):c.2457-27G>A rs17011353
NM_000379.4(XDH):c.2544+35A>T rs2365842
NM_000379.4(XDH):c.2545-125C>T rs1018505
NM_000379.4(XDH):c.2545-32T>C rs6760292
NM_000379.4(XDH):c.2545-32T>G rs6760292
NM_000379.4(XDH):c.2632-301C>A rs28493055
NM_000379.4(XDH):c.2698C>T (p.Arg900Trp)
NM_000379.4(XDH):c.2969+66dup rs11408029
NM_000379.4(XDH):c.2970-230T>G rs7557095
NM_000379.4(XDH):c.496-206A>G rs206847
NM_000379.4(XDH):c.651+31G>A rs45557040
NM_000379.4(XDH):c.652-27= rs477626
NM_000379.4(XDH):c.652-312dup rs79597679
NM_000379.4(XDH):c.706T>A (p.Trp236Arg)
NM_000379.4(XDH):c.794-193A>G rs45470100
NM_000379.4(XDH):c.880C>G (p.Pro294Ala)
NM_000379.4(XDH):c.886+260C>T rs45568731

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