ClinVar Miner

Variants with conflicting interpretations "pathogenic" from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology and "likely pathogenic" from Counsyl

Minimum review status of the submission from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology: Collection method of the submission from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 17
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HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909 0.00006
NM_000520.6(HEXA):c.986+3A>G rs200926928 0.00004
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558 0.00003
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787 0.00002
NM_153717.3(EVC):c.2782+1G>T rs1007534611 0.00002
NM_000310.4(PPT1):c.776dup (p.Glu260fs) rs1349528345 0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678 0.00001
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg) rs796053439 0.00001
NM_000535.7(PMS2):c.251-2A>T rs587779340 0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) rs769648248
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs) rs587780024
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter) rs748170941
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs) rs80357596
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868

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