ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_004992.3(MECP2):c.1126C>T (p.Pro376Ser) rs61752387
NM_004992.3(MECP2):c.1162C>T (p.Pro388Ser) rs61753000
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys) rs587784384
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) rs121918363
NM_198276.3(TMEM17):c.306C>A (p.Asn102Lys) rs201339749

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