ClinVar Miner

List of variants reported as uncertain significance for X-linked disease by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

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_000033.4(ABCD1):c.1261G>A (p.Glu421Lys) rs1255903649
NM_000117.2(EMD):c.454C>T (p.Arg152Cys) rs376456050
NM_001031834.1(RAB40AL):c.176A>G (p.Asp59Gly) rs145606134
NM_001031834.1(RAB40AL):c.177C>A (p.Asp59Glu) rs138133927
NM_013995.2(LAMP2):c.1091C>T (p.Thr364Ile) rs183781327

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