ClinVar Miner

List of variants reported as pathogenic for X-linked recessive disease by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (16):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000273.3(GPR143):c.36del (p.Thr13fs)
NM_001167.4(XIAP):c.985del (p.Tyr329fs)
NM_002351.5(SH2D1A):c.251T>C (p.Ile84Thr)

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