ClinVar Miner

List of variants studied for Moyamoya syndrome by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_002834.4(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_006767.4(LZTR1):c.510-2A>G
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165

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