ClinVar Miner

List of variants in gene IL1RAPL1 reported as pathogenic for intellectual disability, X-linked 21

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 Xp21.2(chrX:29686547-29686621)
NG_008292.1:g.700375-?_1335033+?del
NG_008292.2:g.(?_707879)_(1040749_?)del
NM_014271.4(IL1RAPL1):c.1054C>T (p.Arg352Ter) rs1569203705
NM_014271.4(IL1RAPL1):c.1191_1201+6del
NM_014271.4(IL1RAPL1):c.1377C>A (p.Tyr459Ter) rs122461160
NM_014271.4(IL1RAPL1):c.1460G>A (p.Trp487Ter) rs122461161

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