ClinVar Miner

List of variants in gene IQSEC2 reported as likely pathogenic for X-linked disease

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_001111125.3(IQSEC2):c.2460-2A>G rs1602279457
NM_001111125.3(IQSEC2):c.2889+1G>A rs1556861311
NM_001111125.3(IQSEC2):c.2983C>T (p.Arg995Trp) rs1057521657
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=) rs1602260263
NM_001111125.3(IQSEC2):c.3817C>T (p.Gln1273Ter) rs1569291699
NM_001111125.3(IQSEC2):c.3875del (p.Pro1292fs) rs1569291627
NM_001111125.3(IQSEC2):c.738-1G>A

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