ClinVar Miner

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

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_005006.7(NDUFS1):c.683T>C (p.Val228Ala) rs370411488
NM_016589.4(TIMMDC1):c.597-1340A>G rs781525096

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