ClinVar Miner

List of variants in gene XDH studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP
NM_000379.3(XDH):c.3277-13delG rs752820043
NM_000379.4(XDH):c.*1081A>G rs45488100
NM_000379.4(XDH):c.*1094A>C rs886055943
NM_000379.4(XDH):c.*1407C>T rs886055942
NM_000379.4(XDH):c.*1452C>T rs886055941
NM_000379.4(XDH):c.*1477A>G rs6710015
NM_000379.4(XDH):c.*1491A>G rs886055940
NM_000379.4(XDH):c.*1494A>G rs371568987
NM_000379.4(XDH):c.*1516C>T rs1054889
NM_000379.4(XDH):c.*1555G>T rs6752058
NM_000379.4(XDH):c.*404C>T rs759403236
NM_000379.4(XDH):c.*41G>C rs45593434
NM_000379.4(XDH):c.*475A>C rs372973524
NM_000379.4(XDH):c.*518A>G rs1042039
NM_000379.4(XDH):c.*699C>T rs542769393
NM_000379.4(XDH):c.*705_*706CT[1] rs10590467
NM_000379.4(XDH):c.*823A>G rs886055945
NM_000379.4(XDH):c.*829G>A rs886055944
NM_000379.4(XDH):c.*878T>C rs45532535
NM_000379.4(XDH):c.*881G>A rs544639351
NM_000379.4(XDH):c.*912A>T rs45456093
NM_000379.4(XDH):c.*938G>T rs193245354
NM_000379.4(XDH):c.*945C>A rs567451050
NM_000379.4(XDH):c.-66G>C rs36208390
NM_000379.4(XDH):c.1134C>T (p.Gly378=) rs45612738
NM_000379.4(XDH):c.1172C>T (p.Pro391Leu) rs1558697792
NM_000379.4(XDH):c.1184A>T (p.Lys395Met) rs34929837
NM_000379.4(XDH):c.1242+7T>C rs751688778
NM_000379.4(XDH):c.1243-7C>G rs200362582
NM_000379.4(XDH):c.1274C>G (p.Ser425Cys) rs138649664
NM_000379.4(XDH):c.140dup (p.Cys48fs)
NM_000379.4(XDH):c.1509C>G (p.Gly503=) rs45612839
NM_000379.4(XDH):c.1602+1G>A
NM_000379.4(XDH):c.1629C>T (p.Phe543=) rs140651875
NM_000379.4(XDH):c.1686+1G>C rs148412639
NM_000379.4(XDH):c.1686+8C>T rs17395224
NM_000379.4(XDH):c.1687-8C>A rs370270278
NM_000379.4(XDH):c.1749G>A (p.Ala583=) rs141831710
NM_000379.4(XDH):c.1751A>C (p.Asp584Ala) rs45491693
NM_000379.4(XDH):c.1800C>T (p.Tyr600=) rs139964785
NM_000379.4(XDH):c.1820G>A (p.Arg607Gln) rs45442092
NM_000379.4(XDH):c.1856+7G>A rs184028774
NM_000379.4(XDH):c.1857-4G>A rs17395175
NM_000379.4(XDH):c.1885G>T (p.Val629Phe)
NM_000379.4(XDH):c.1901G>T (p.Cys634Phe) rs886055947
NM_000379.4(XDH):c.1936A>G (p.Ile646Val) rs17323225
NM_000379.4(XDH):c.1990G>A (p.Val664Ile) rs201301387
NM_000379.4(XDH):c.2107A>G (p.Ile703Val) rs17011368
NM_000379.4(XDH):c.2176G>C (p.Glu726Gln) rs61731083
NM_000379.4(XDH):c.2198-7T>A rs750072647
NM_000379.4(XDH):c.2211C>T (p.Ile737=) rs2295475
NM_000379.4(XDH):c.2252T>C (p.Ile751Thr)
NM_000379.4(XDH):c.2268C>T (p.Gly756=) rs886055946
NM_000379.4(XDH):c.2274del (p.Glu760fs) rs760186813
NM_000379.4(XDH):c.2362A>T (p.Ile788Phe)
NM_000379.4(XDH):c.2437G>C (p.Val813Leu)
NM_000379.4(XDH):c.2488C>T (p.Arg830Cys) rs781137664
NM_000379.4(XDH):c.2592C>T (p.His864=) rs368056609
NM_000379.4(XDH):c.2603T>G (p.Val868Gly)
NM_000379.4(XDH):c.2634T>C (p.Ile878=) rs146994573
NM_000379.4(XDH):c.2851G>A (p.Gly951Arg) rs142675390
NM_000379.4(XDH):c.2911G>A (p.Glu971Lys) rs148921536
NM_000379.4(XDH):c.3030T>C (p.Phe1010=) rs1884725
NM_000379.4(XDH):c.3052-12C>G rs13415401
NM_000379.4(XDH):c.3052-4C>T rs370085305
NM_000379.4(XDH):c.3059C>T (p.Ala1020Val) rs536923494
NM_000379.4(XDH):c.3084C>T (p.Gly1028=) rs45604135
NM_000379.4(XDH):c.3148-4G>T rs545686434
NM_000379.4(XDH):c.3249C>T (p.Ser1083=) rs45562835
NM_000379.4(XDH):c.3260A>G (p.Asn1087Ser)
NM_000379.4(XDH):c.3271G>C (p.Val1091Leu) rs45619033
NM_000379.4(XDH):c.3276+12A>G rs1366813
NM_000379.4(XDH):c.340G>A (p.Gly114Arg)
NM_000379.4(XDH):c.3440C>G (p.Ser1147Ter) rs1553411468
NM_000379.4(XDH):c.3488T>C (p.Val1163Ala)
NM_000379.4(XDH):c.3507del (p.Gly1170fs) rs1558674294
NM_000379.4(XDH):c.3520-1G>C
NM_000379.4(XDH):c.361G>A (p.Val121Ile)
NM_000379.4(XDH):c.3647C>A (p.Pro1216His) rs143981573
NM_000379.4(XDH):c.3665C>T (p.Thr1222Ile) rs148235835
NM_000379.4(XDH):c.3717G>A (p.Glu1239=) rs207440
NM_000379.4(XDH):c.3736C>T (p.Arg1246Cys)
NM_000379.4(XDH):c.3847C>T (p.Arg1283Ter) rs751921838
NM_000379.4(XDH):c.385C>T (p.Arg129Trp)
NM_000379.4(XDH):c.3875A>G (p.Lys1292Arg) rs73922346
NM_000379.4(XDH):c.3930C>T (p.Cys1310=) rs138936101
NM_000379.4(XDH):c.3937A>G (p.Lys1313Glu) rs141335716
NM_000379.4(XDH):c.405C>T (p.Thr135=) rs72549370
NM_000379.4(XDH):c.445C>T (p.Arg149Cys) rs72549369
NM_000379.4(XDH):c.463C>A (p.Pro155Thr)
NM_000379.4(XDH):c.514G>A (p.Gly172Arg) rs45523133
NM_000379.4(XDH):c.530C>A (p.Pro177Gln) rs781730239
NM_000379.4(XDH):c.606G>A (p.Thr202=) rs752308380
NM_000379.4(XDH):c.617C>T (p.Pro206Leu) rs201332711
NM_000379.4(XDH):c.627G>A (p.Glu209=) rs45575032
NM_000379.4(XDH):c.635T>C (p.Phe212Ser)
NM_000379.4(XDH):c.682C>T (p.Arg228Ter) rs119460972
NM_000379.4(XDH):c.825T>C (p.Phe275=) rs145596057
NM_000379.4(XDH):c.837C>T (p.Val279=) rs4407290
XDH, 1-BP DEL, 2567C

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