ClinVar Miner

List of variants reported as pathogenic for X-linked disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.2167G>A (p.Ala723Thr) rs137852436 0.00001
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000166.6(GJB1):c.-17G>A rs879254047
NM_000166.6(GJB1):c.271G>A (p.Val91Met) rs756928158
NM_000444.6(PHEX):c.1645+1G>A rs886041225
NM_000444.6(PHEX):c.2071-1G>A rs886041374
NM_001008537.3(NEXMIF):c.3458dup (p.Asn1153fs) rs1602211123
NM_001356.5(DDX3X):c.1135_1136del (p.Met379fs)
NM_004586.3(RPS6KA3):c.244-1G>A
NM_006517.5(SLC16A2):c.532dup (p.Ala178fs)
NM_006579.3(EBP):c.203G>A (p.Trp68Ter) rs2061771803

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