ClinVar Miner

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

Included ClinVar conditions (311):
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Total variants: 36
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HGVS dbSNP
GRCh37/hg19 Xp21.2(chrX:29686547-29686621)
IL1RAPL1, EX2-5DEL
NG_008292.1:g.700375-?_1335033+?del
NM_014271.4(IL1RAPL1):c.-19G>A rs6526806
NM_014271.4(IL1RAPL1):c.-20C>T rs200878713
NM_014271.4(IL1RAPL1):c.-25+14A>C
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.-39G>A rs143054072
NM_014271.4(IL1RAPL1):c.-402G>A rs1057515846
NM_014271.4(IL1RAPL1):c.-405T>A rs762456633
NM_014271.4(IL1RAPL1):c.-82C>A rs1057515849
NM_014271.4(IL1RAPL1):c.1089C>T (p.Gly363=) rs201215945
NM_014271.4(IL1RAPL1):c.1136A>G (p.Lys379Arg)
NM_014271.4(IL1RAPL1):c.1191G>A (p.Glu397=) rs7049358
NM_014271.4(IL1RAPL1):c.1191_1201+6del rs1569208908
NM_014271.4(IL1RAPL1):c.12G>A (p.Pro4=) rs143600441
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.1443C>T (p.Tyr481=)
NM_014271.4(IL1RAPL1):c.1460G>A (p.Trp487Ter) rs122461161
NM_014271.4(IL1RAPL1):c.1602G>A (p.Leu534=)
NM_014271.4(IL1RAPL1):c.1605G>T (p.Thr535=) rs35305747
NM_014271.4(IL1RAPL1):c.1690A>C (p.Ile564Leu) rs1057515852
NM_014271.4(IL1RAPL1):c.1910C>G (p.Thr637Ser)
NM_014271.4(IL1RAPL1):c.2067C>G (p.Thr689=) rs140330609
NM_014271.4(IL1RAPL1):c.206G>A (p.Ser69Asn) rs747458852
NM_014271.4(IL1RAPL1):c.36C>T (p.Tyr12=) rs148060509
NM_014271.4(IL1RAPL1):c.408T>C (p.Gly136=)
NM_014271.4(IL1RAPL1):c.424C>G (p.Leu142Val) rs765477668
NM_014271.4(IL1RAPL1):c.550-4A>G
NM_014271.4(IL1RAPL1):c.726C>A (p.Pro242=) rs748193306
NM_014271.4(IL1RAPL1):c.779G>A (p.Gly260Asp)
NM_014271.4(IL1RAPL1):c.83-6C>T rs180930821
NM_014271.4(IL1RAPL1):c.83-8dup rs773751585

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