ClinVar Miner

List of variants studied for Moyamoya disease by Baylor Genetics

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001130682.3(GUCY1A1):c.630C>T (p.Thr210=) rs138687424 0.00008
NM_001256071.3(RNF213):c.1837G>T (p.Asp613Tyr) rs1383472329 0.00001
GRCh37/hg19 Xq28(chrX:154305031-154307464)
NM_001130682.3(GUCY1A1):c.1535G>A (p.Arg512His) rs369215353
NM_001256071.3(RNF213):c.13997C>T (p.Thr4666Ile) rs2080083465

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