ClinVar Miner

List of variants in gene IL1RAPL1 studied for X-linked disease

Included ClinVar conditions (274):
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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_014271.4(IL1RAPL1):c.-19G>A rs6526806 0.61514
NM_014271.4(IL1RAPL1):c.-39G>A rs143054072 0.00962
NM_014271.4(IL1RAPL1):c.1191G>A (p.Glu397=) rs7049358 0.00631
NM_014271.4(IL1RAPL1):c.1605G>T (p.Thr535=) rs35305747 0.00223
NM_014271.4(IL1RAPL1):c.36C>T (p.Tyr12=) rs148060509 0.00132
NM_014271.4(IL1RAPL1):c.12G>A (p.Pro4=) rs143600441 0.00127
NM_014271.4(IL1RAPL1):c.2067C>G (p.Thr689=) rs140330609 0.00111
NM_014271.4(IL1RAPL1):c.-20C>T rs200878713 0.00072
NM_014271.4(IL1RAPL1):c.83-6C>T rs180930821 0.00066
NM_014271.4(IL1RAPL1):c.1136A>G (p.Lys379Arg) rs138267399 0.00036
NM_014271.4(IL1RAPL1):c.550-4A>G rs368301683 0.00008
NM_014271.4(IL1RAPL1):c.1443C>T (p.Tyr481=) rs777536426 0.00006
NM_014271.4(IL1RAPL1):c.1910C>G (p.Thr637Ser) rs756672167 0.00006
NM_014271.4(IL1RAPL1):c.726C>A (p.Pro242=) rs748193306 0.00006
NM_014271.4(IL1RAPL1):c.-25+14A>C rs146138116 0.00005
NM_014271.4(IL1RAPL1):c.-402G>A rs1057515846 0.00002
NM_014271.4(IL1RAPL1):c.-405T>A rs762456633 0.00002
NM_014271.4(IL1RAPL1):c.1602G>A (p.Leu534=) rs1242850856 0.00002
NM_014271.4(IL1RAPL1):c.408T>C (p.Gly136=) rs1397912387 0.00002
NM_014271.4(IL1RAPL1):c.1089C>T (p.Gly363=) rs201215945 0.00001
GRCh37/hg19 Xp21.2(chrX:29686547-29686621)
NC_000023.11:g.29892903_29905635del
NG_008292.1:g.700375-?_1335033+?del
NG_008292.2:g.(?_707879)_(1040749_?)del
NM_014271.4(IL1RAPL1):c.-302del rs779869307
NM_014271.4(IL1RAPL1):c.-302dup rs779869307
NM_014271.4(IL1RAPL1):c.-303_-302del rs779869307
NM_014271.4(IL1RAPL1):c.-82C>A rs1057515849
NM_014271.4(IL1RAPL1):c.1075del (p.Glu359fs) rs2147251555
NM_014271.4(IL1RAPL1):c.1191_1201+6del
NM_014271.4(IL1RAPL1):c.1195G>A (p.Asp399Asn)
NM_014271.4(IL1RAPL1):c.1227dup (p.Ser410fs) rs2147258610
NM_014271.4(IL1RAPL1):c.1368T>A (p.Thr456=) rs1057515851
NM_014271.4(IL1RAPL1):c.1377C>A (p.Tyr459Ter) rs122461160
NM_014271.4(IL1RAPL1):c.1460G>A (p.Trp487Ter) rs122461161
NM_014271.4(IL1RAPL1):c.148C>T (p.Arg50Ter) rs781674023
NM_014271.4(IL1RAPL1):c.1690A>C (p.Ile564Leu) rs1057515852
NM_014271.4(IL1RAPL1):c.1882T>C (p.Tyr628His) rs2147259256
NM_014271.4(IL1RAPL1):c.1891G>A (p.Asp631Asn) rs1933404123
NM_014271.4(IL1RAPL1):c.1891_1897del (p.Asp631fs) rs2147259265
NM_014271.4(IL1RAPL1):c.206G>A (p.Ser69Asn) rs747458852
NM_014271.4(IL1RAPL1):c.2071A>G (p.Ile691Val) rs1933408855
NM_014271.4(IL1RAPL1):c.363-41213G>A rs1383210759
NM_014271.4(IL1RAPL1):c.366_379delinsGTAACAAAG (p.Asn122_Met127delinsLysTer)
NM_014271.4(IL1RAPL1):c.424C>G (p.Leu142Val)
NM_014271.4(IL1RAPL1):c.448T>G (p.Tyr150Asp) rs1933918841
NM_014271.4(IL1RAPL1):c.779G>A (p.Gly260Asp) rs1932808020
NM_014271.4(IL1RAPL1):c.82G>A (p.Ala28Thr)
NM_014271.4(IL1RAPL1):c.83-8dup rs773751585
NM_014271.4(IL1RAPL1):c.84C>T (p.Ala28=)
NM_014271.4:c.(?_704)_(778_?)dup

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