ClinVar Miner

List of variants studied for X-linked disease by Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001111125.3(IQSEC2):c.2053G>A (p.Glu685Lys) rs781830206
NM_001111125.3(IQSEC2):c.2582+2T>C rs1569300277
NM_001111125.3(IQSEC2):c.3817C>T (p.Gln1273Ter) rs1569291699
NM_001111125.3(IQSEC2):c.4419del (p.Ser1474fs) rs1569290954
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715

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