ClinVar Miner

List of variants reported as likely benign for X-linked recessive disease

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 171
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001320752.2(STS):c.383-16C>T rs56055086 0.00332
NM_001127898.4(CLCN5):c.1257C>T (p.Thr419=) rs144901347 0.00327
NM_001042750.2(STAG2):c.45-11T>C rs183562950 0.00106
NM_002351.5(SH2D1A):c.-74T>A rs142160401 0.00059
NM_001127898.4(CLCN5):c.2361-18A>G rs372830719 0.00057
NM_000240.4(MAOA):c.1375-17T>C rs368285679 0.00050
NM_001167.4(XIAP):c.688G>A (p.Val230Ile) rs144884904 0.00036
NM_001167.4(XIAP):c.978G>A (p.Gly326=) rs376282989 0.00035
NM_000240.4(MAOA):c.1526C>T (p.Thr509Ile) rs147298607 0.00034
NM_002351.5(SH2D1A):c.346+3A>G rs199706936 0.00031
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg) rs62635032 0.00029
NM_000240.4(MAOA):c.1437+14C>T rs372158657 0.00020
NM_001127898.4(CLCN5):c.1297G>A (p.Val433Met) rs140514551 0.00020
NM_001167.4(XIAP):c.1242A>G (p.Leu414=) rs147262472 0.00016
NM_001127898.4(CLCN5):c.1422G>A (p.Glu474=) rs199594074 0.00015
NM_001127898.4(CLCN5):c.1223G>A (p.Arg408His) rs781790886 0.00013
NM_001167.4(XIAP):c.73G>C (p.Glu25Gln) rs781204574 0.00013
NM_001167.4(XIAP):c.844G>A (p.Glu282Lys) rs777303823 0.00012
NM_000240.4(MAOA):c.412-6C>G rs369122751 0.00011
NM_000240.4(MAOA):c.1262+6A>G rs765738971 0.00010
NM_001167.4(XIAP):c.962C>G (p.Ala321Gly) rs182340753 0.00007
NM_000240.4(MAOA):c.1119C>A (p.Ile373=) rs200913136 0.00006
NM_000240.4(MAOA):c.1389C>T (p.Leu463=) rs771568228 0.00006
NM_000240.4(MAOA):c.412-13C>T rs763906089 0.00006
NM_001167.4(XIAP):c.1100A>G (p.Asp367Gly) rs200273554 0.00006
NM_000240.4(MAOA):c.1262+19G>A rs377168294 0.00005
NM_001167.4(XIAP):c.1149G>A (p.Gly383=) rs374184914 0.00005
NM_001167.4(XIAP):c.933G>A (p.Lys311=) rs749597959 0.00005
NM_000240.4(MAOA):c.1262+18C>T rs372784589 0.00004
NM_000240.4(MAOA):c.702C>T (p.Leu234=) rs370853887 0.00004
NM_000240.4(MAOA):c.956-8T>G rs780408416 0.00003
NM_001167.4(XIAP):c.870T>C (p.Tyr290=) rs770461720 0.00003
NM_000240.4(MAOA):c.1052+14G>A rs113551306 0.00002
NM_000240.4(MAOA):c.1262+7C>T rs773216160 0.00002
NM_000240.4(MAOA):c.255C>G (p.Gly85=) rs1601935224 0.00002
NM_000240.4(MAOA):c.30G>A (p.Ala10=) rs1347324620 0.00002
NM_000240.4(MAOA):c.330C>T (p.Gly110=) rs748344922 0.00002
NM_000240.4(MAOA):c.681C>T (p.Ser227=) rs758225239 0.00002
NM_001167.4(XIAP):c.1071G>A (p.Glu357=) rs369835712 0.00002
NM_001167.4(XIAP):c.1191T>G (p.Ile397Met) rs760574724 0.00002
NM_001167.4(XIAP):c.1437C>T (p.Asp479=) rs781127670 0.00002
NM_001167.4(XIAP):c.283G>A (p.Gly95Ser) rs745844064 0.00002
NM_001167.4(XIAP):c.435G>T (p.Gln145His) rs759909620 0.00002
NM_001167.4(XIAP):c.446T>C (p.Ile149Thr) rs774308309 0.00002
NM_000240.4(MAOA):c.1165-11C>T rs948692153 0.00001
NM_000240.4(MAOA):c.1488C>G (p.Pro496=) rs1569203097 0.00001
NM_000240.4(MAOA):c.1545G>T (p.Gly515=) rs1223537199 0.00001
NM_001042750.2(STAG2):c.1101T>C (p.Phe367=) rs190643141 0.00001
NM_001127898.4(CLCN5):c.796A>G (p.Ile266Val) rs200953235 0.00001
NM_001167.4(XIAP):c.1100-14A>C rs753279953 0.00001
NM_001167.4(XIAP):c.183G>T (p.Val61=) rs144938731 0.00001
NM_001167.4(XIAP):c.549G>A (p.Glu183=) rs1308704581 0.00001
NM_001167.4(XIAP):c.606T>C (p.Cys202=) rs777129433 0.00001
NM_001167.4(XIAP):c.878-4G>A rs371671137 0.00001
NM_002351.5(SH2D1A):c.102C>T (p.Ser34=) rs1484311033 0.00001
NM_002351.5(SH2D1A):c.129A>G (p.Leu43=) rs1569527113 0.00001
NM_002351.5(SH2D1A):c.273T>C (p.Asp91=) rs775759946 0.00001
NM_002351.5(SH2D1A):c.346+6A>T rs746265444 0.00001
NM_002351.5(SH2D1A):c.373C>T (p.Leu125=) rs1230442586 0.00001
NM_000240.4(MAOA):c.1052+17T>G
NM_000240.4(MAOA):c.1053-10C>G rs1601948966
NM_000240.4(MAOA):c.1106+15C>T
NM_000240.4(MAOA):c.1164+7A>C
NM_000240.4(MAOA):c.1203G>A (p.Gln401=)
NM_000240.4(MAOA):c.1215C>T (p.Gly405=)
NM_000240.4(MAOA):c.1299G>A (p.Ala433=)
NM_000240.4(MAOA):c.1360C>A (p.Arg454=)
NM_000240.4(MAOA):c.1375-14T>C
NM_000240.4(MAOA):c.1401C>T (p.Thr467=)
NM_000240.4(MAOA):c.1437+11T>C
NM_000240.4(MAOA):c.1449G>A (p.Ala483=)
NM_000240.4(MAOA):c.156A>G (p.Thr52=)
NM_000240.4(MAOA):c.15G>A (p.Glu5=) rs2147066663
NM_000240.4(MAOA):c.186C>T (p.Tyr62=)
NM_000240.4(MAOA):c.306+18C>A
NM_000240.4(MAOA):c.307-18T>C
NM_000240.4(MAOA):c.307-19G>C
NM_000240.4(MAOA):c.412-20G>A
NM_000240.4(MAOA):c.503+14A>T
NM_000240.4(MAOA):c.576G>T (p.Leu192=)
NM_000240.4(MAOA):c.646-13C>A
NM_000240.4(MAOA):c.73+19G>C
NM_000240.4(MAOA):c.732C>T (p.Val244=) rs980804164
NM_000240.4(MAOA):c.738C>T (p.His246=)
NM_000240.4(MAOA):c.74-6C>T rs1196492976
NM_000240.4(MAOA):c.74-9T>A
NM_000240.4(MAOA):c.774G>A (p.Thr258=)
NM_000240.4(MAOA):c.796-14TG[3]
NM_000240.4(MAOA):c.796-15T>G
NM_000240.4(MAOA):c.796-9G>A rs2033882536
NM_000240.4(MAOA):c.804C>T (p.Tyr268=)
NM_000240.4(MAOA):c.831G>A (p.Leu277=)
NM_000240.4(MAOA):c.933G>A (p.Lys311=)
NM_000240.4(MAOA):c.93C>T (p.Leu31=)
NM_001042750.2(STAG2):c.1535-3del rs36097834
NM_001042750.2(STAG2):c.22C>A (p.Pro8Thr)
NM_001127898.4(CLCN5):c.1185G>A (p.Leu395=)
NM_001127898.4(CLCN5):c.2390A>T (p.Asp797Val)
NM_001167.4(XIAP):c.1053T>C (p.Cys351=) rs2053405322
NM_001167.4(XIAP):c.1056+13T>A
NM_001167.4(XIAP):c.1056+21_1056+22del rs2148096290
NM_001167.4(XIAP):c.1056+28_1056+60dup
NM_001167.4(XIAP):c.1057-13A>G
NM_001167.4(XIAP):c.1057-20A>G
NM_001167.4(XIAP):c.1100-14A>T
NM_001167.4(XIAP):c.1101T>C (p.Asp367=) rs2148107324
NM_001167.4(XIAP):c.1141C>A (p.Arg381=)
NM_001167.4(XIAP):c.1206C>T (p.Ser402=)
NM_001167.4(XIAP):c.1251T>C (p.Ala417=)
NM_001167.4(XIAP):c.1257A>G (p.Lys419=)
NM_001167.4(XIAP):c.1300+10G>T
NM_001167.4(XIAP):c.1300+12T>G
NM_001167.4(XIAP):c.1300+17T>C rs2148107543
NM_001167.4(XIAP):c.1301-17A>T
NM_001167.4(XIAP):c.1301-20A>C rs1424655367
NM_001167.4(XIAP):c.1301-6_1301-5del
NM_001167.4(XIAP):c.1314A>G (p.Glu438=) rs199833128
NM_001167.4(XIAP):c.1323A>G (p.Leu441=) rs2148112163
NM_001167.4(XIAP):c.1380C>T (p.Ile460=)
NM_001167.4(XIAP):c.1407C>T (p.Val469=)
NM_001167.4(XIAP):c.1452C>T (p.Cys484=)
NM_001167.4(XIAP):c.168T>C (p.Gly56=)
NM_001167.4(XIAP):c.180C>T (p.Thr60=)
NM_001167.4(XIAP):c.18T>C (p.Phe6=)
NM_001167.4(XIAP):c.249C>T (p.His83=)
NM_001167.4(XIAP):c.261C>T (p.Ser87=)
NM_001167.4(XIAP):c.300T>C (p.Asn100=) rs2148089584
NM_001167.4(XIAP):c.327T>C (p.Gly109=)
NM_001167.4(XIAP):c.345C>T (p.Tyr115=)
NM_001167.4(XIAP):c.369C>T (p.Ser123=)
NM_001167.4(XIAP):c.408T>C (p.His136=)
NM_001167.4(XIAP):c.438T>G (p.Val146=)
NM_001167.4(XIAP):c.465G>A (p.Pro155=)
NM_001167.4(XIAP):c.486T>C (p.Ser162=) rs2053349352
NM_001167.4(XIAP):c.491A>G (p.Glu164Gly)
NM_001167.4(XIAP):c.588C>T (p.Asp196=)
NM_001167.4(XIAP):c.666A>G (p.Arg222=)
NM_001167.4(XIAP):c.72A>G (p.Val24=) rs1209504379
NM_001167.4(XIAP):c.738T>C (p.Ser246=)
NM_001167.4(XIAP):c.778C>T (p.Pro260Ser) rs2148090201
NM_001167.4(XIAP):c.804G>A (p.Arg268=)
NM_001167.4(XIAP):c.819G>A (p.Gly273=) rs2148090248
NM_001167.4(XIAP):c.873T>C (p.Ala291=)
NM_001167.4(XIAP):c.877+8_877+9del rs1355498168
NM_001167.4(XIAP):c.978-6G>A
NM_001167.4(XIAP):c.984A>G (p.Lys328=)
NM_001320752.2(STS):c.259+8_259+10del rs773065157
NM_002351.5(SH2D1A):c.120G>A (p.Val40=)
NM_002351.5(SH2D1A):c.123C>T (p.Tyr41=)
NM_002351.5(SH2D1A):c.129A>C (p.Leu43=)
NM_002351.5(SH2D1A):c.137+14G>A
NM_002351.5(SH2D1A):c.138-7T>C
NM_002351.5(SH2D1A):c.183A>C (p.Thr61=) rs1569527577
NM_002351.5(SH2D1A):c.201+12T>C
NM_002351.5(SH2D1A):c.202-10T>C
NM_002351.5(SH2D1A):c.202-17G>A rs2147534006
NM_002351.5(SH2D1A):c.202-5del rs767110636
NM_002351.5(SH2D1A):c.219T>C (p.His73=)
NM_002351.5(SH2D1A):c.228T>C (p.Tyr76=) rs2147534039
NM_002351.5(SH2D1A):c.292C>T (p.Leu98=)
NM_002351.5(SH2D1A):c.312G>A (p.Lys104=)
NM_002351.5(SH2D1A):c.330T>C (p.Ser110=) rs2060066337
NM_002351.5(SH2D1A):c.347-12A>G
NM_002351.5(SH2D1A):c.366T>C (p.Asp122=)
NM_002351.5(SH2D1A):c.39G>A (p.Arg13=)
NM_002351.5(SH2D1A):c.45C>T (p.Thr15=)
NM_002351.5(SH2D1A):c.48C>A (p.Gly16=) rs72610640
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=) rs72610640
NM_002351.5(SH2D1A):c.57C>T (p.Leu19=)
NM_002351.5(SH2D1A):c.87T>C (p.Tyr29=)
NM_002351.5(SH2D1A):c.96G>A (p.Arg32=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.