ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.4825C>T (p.His1609Tyr)
NM_001008537.3(NEXMIF):c.2860C>T (p.Gln954Ter) rs2080104580
NM_001272071.2(AP1S2):c.321_334del (p.Glu107fs) rs1933972061
NM_004187.5(KDM5C):c.3845_3846del (p.Thr1282fs)

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