ClinVar Miner

List of variants reported as uncertain significance for X-linked syndromic intellectual disability by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_031407.7(HUWE1):c.5441A>G (p.Asn1814Ser) rs1556970140 0.00001
NM_000489.6(ATRX):c.3422G>A (p.Ser1141Asn) rs782785569
NM_001008537.3(NEXMIF):c.4055A>G (p.Asn1352Ser) rs1299106178
NM_001110792.2(MECP2):c.1147C>T (p.His383Tyr) rs2148661028
NM_001367721.1(CASK):c.1941G>C (p.Gln647His)
NM_005120.3(MED12):c.823C>G (p.Leu275Val) rs2147778826
NM_031407.7(HUWE1):c.3080C>T (p.Pro1027Leu)

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