ClinVar Miner

List of variants in gene RNASEH2B studied for Moyamoya syndrome

Included ClinVar conditions (56):
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Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP
NC_000013.10:g.(?_51528021)_(51530630_?)del
NM_001142279.2(RNASEH2B):c.-107G>A rs886050289
NM_001142279.2(RNASEH2B):c.-112C>T rs184573722
NM_001142279.2(RNASEH2B):c.-117C>G rs553446261
NM_001142279.2(RNASEH2B):c.-181G>A rs886050288
NM_001142279.2(RNASEH2B):c.-210G>C rs112702177
NM_001142279.2(RNASEH2B):c.-228C>A rs577725827
NM_001142279.2(RNASEH2B):c.-313C>G rs886050287
NM_001142279.2(RNASEH2B):c.-399C>G rs553965425
NM_001142279.2(RNASEH2B):c.105_107del (p.Met36del) rs1566079047
NM_001142279.2(RNASEH2B):c.121del (p.Val41fs) rs1452451283
NM_001142279.2(RNASEH2B):c.127C>T (p.Pro43Ser) rs762281569
NM_001142279.2(RNASEH2B):c.136+1del rs75186889
NM_001142279.2(RNASEH2B):c.156G>A (p.Leu52=) rs35416748
NM_001142279.2(RNASEH2B):c.179T>G (p.Leu60Arg)
NM_001142279.2(RNASEH2B):c.189A>G (p.Val63=) rs35595258
NM_001142279.2(RNASEH2B):c.269C>T (p.Pro90Leu) rs770203126
NM_001142279.2(RNASEH2B):c.285del (p.Leu96fs) rs1566080738
NM_001142279.2(RNASEH2B):c.2T>C (p.Met1Thr)
NM_001142279.2(RNASEH2B):c.308A>G (p.Lys103Arg)
NM_001142279.2(RNASEH2B):c.314A>C (p.Asp105Ala)
NM_001142279.2(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_001142279.2(RNASEH2B):c.40C>T (p.Arg14Trp) rs900876937
NM_001142279.2(RNASEH2B):c.412C>T (p.Leu138Phe) rs78705382
NM_001142279.2(RNASEH2B):c.428A>T (p.Glu143Val)
NM_001142279.2(RNASEH2B):c.445G>C (p.Glu149Gln)
NM_001142279.2(RNASEH2B):c.448A>G (p.Ile150Val)
NM_001142279.2(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037
NM_001142279.2(RNASEH2B):c.488C>T (p.Thr163Ile)
NM_001142279.2(RNASEH2B):c.509del (p.Lys170fs) rs1085307091
NM_001142279.2(RNASEH2B):c.510+1G>A
NM_001142279.2(RNASEH2B):c.510+1del
NM_001142279.2(RNASEH2B):c.523G>A (p.Val175Met)
NM_001142279.2(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_001142279.2(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_001142279.2(RNASEH2B):c.618_619delinsTA (p.Glu206_Asp207delinsAspAsn)
NM_001142279.2(RNASEH2B):c.659T>C (p.Ile220Thr)
NM_001142279.2(RNASEH2B):c.667G>T (p.Glu223Ter) rs1555257383
NM_001142279.2(RNASEH2B):c.699-11A>G rs886050290
NM_001142279.2(RNASEH2B):c.719C>G (p.Ser240Ter)
NM_001142279.2(RNASEH2B):c.741+4414A>G rs200721645
NM_001142279.2(RNASEH2B):c.741+4440A>T
NM_001142279.2(RNASEH2B):c.741+4445A>G rs150363383
NM_001142279.2(RNASEH2B):c.741+4485G>A
NM_001142279.2(RNASEH2B):c.741+4486T>C rs76413207
NM_001142279.2(RNASEH2B):c.741+6889G>T rs144408326
NM_001142279.2(RNASEH2B):c.741+6927C>A rs886050291
NM_001142279.2(RNASEH2B):c.741+6955dup rs75254367
NM_001142279.2(RNASEH2B):c.741+7032G>T rs751735556
NM_001142279.2(RNASEH2B):c.741+7128A>G rs886050292
NM_001142279.2(RNASEH2B):c.741+7215A>G rs147825612
NM_001142279.2(RNASEH2B):c.741+7218T>C rs886050293

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