ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "likely pathogenic" from Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 44
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HGVS dbSNP gnomAD frequency
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) rs137868995 0.00125
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936 0.00006
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00004
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174 0.00003
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371 0.00003
NM_000157.4(GBA1):c.681T>G (p.Asn227Lys) rs381418 0.00003
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln) rs80338673 0.00003
NM_138425.4(C12orf57):c.1A>G (p.Met1Val) rs587776954 0.00003
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) rs991082382 0.00002
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp) rs757617999 0.00002
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu) rs755253527 0.00001
NM_000152.5(GAA):c.1222A>G (p.Met408Val) rs560575383 0.00001
NM_000152.5(GAA):c.1327-2A>G rs1410829147 0.00001
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394 0.00001
NM_000152.5(GAA):c.1551+1G>T rs770780848 0.00001
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu) rs374470794 0.00001
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) rs757111744 0.00001
NM_000152.5(GAA):c.2647-7G>A rs192679574 0.00001
NM_000195.5(HPS1):c.988-1G>T rs764927038 0.00001
NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu) rs759876319 0.00001
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) rs199564797 0.00001
NM_000152.5(GAA):c.-32-2A>G rs1445232530
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.5(GAA):c.1437+1G>A rs1555600575
NM_000152.5(GAA):c.1438-1G>C rs147804176
NM_000152.5(GAA):c.1438-1G>T rs147804176
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys) rs1414146587
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser) rs144016984
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.214G>A (p.Gly72Arg) rs193922289
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met) rs886039544
NM_005912.3(MC4R):c.835_836dup (p.Phe280fs) rs193922687
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006

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