ClinVar Miner

List of variants reported as pathogenic for X-linked disease by Sharon lab,Hadassah-Hebrew University Medical Center

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_000390.4(CHM):c.1314C>G (p.Tyr438Ter) rs1603244690
NM_000390.4(CHM):c.564_565del (p.Pro189fs) rs1603264449
NM_000390.4(CHM):c.715C>T (p.Arg239Ter) rs776256380
NM_000390.4(CHM):c.799C>T (p.Arg267Ter) rs886041179
NM_000390.4(CHM):c.819+1G>C rs1603263147
NM_000390.4(CHM):c.877C>T (p.Arg293Ter) rs132630266

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