ClinVar Miner

List of variants reported as benign for Moyamoya syndrome by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_006031.6(PCNT):c.1542C>A (p.Ser514=) rs2249057
NM_006031.6(PCNT):c.2111G>A (p.Gly704Glu) rs2839223
NM_006031.6(PCNT):c.2556T>C (p.Ala852=) rs8131546
NM_006031.6(PCNT):c.2610-5C>T rs2839226
NM_006031.6(PCNT):c.2928C>G (p.Leu976=) rs2839228
NM_006031.6(PCNT):c.3113T>C (p.Val1038Ala) rs6518289
NM_006031.6(PCNT):c.3339T>C (p.Ser1113=) rs61735805
NM_006031.6(PCNT):c.6384A>G (p.Thr2128=) rs60444527
NM_006031.6(PCNT):c.6821C>T (p.Pro2274Leu) rs2070425
NM_006031.6(PCNT):c.6922-5_6922-4insTCTGA rs59957960
NM_006031.6(PCNT):c.720+17T>C rs9982233
NM_006031.6(PCNT):c.721-7G>A rs2839217
NM_006031.6(PCNT):c.7914-16C>T rs2839257
NM_006031.6(PCNT):c.7977G>C (p.Gln2659His) rs2070426
NM_006031.6(PCNT):c.8375A>G (p.Gln2792Arg) rs2073376
NM_006031.6(PCNT):c.8752-5A>C rs149444205
NM_006031.6(PCNT):c.9735A>C (p.Arg3245Ser) rs2073380
NM_006397.2(RNASEH2A):c.33A>G (p.Thr11=) rs11554400

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