ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Molecular Diagnostics Lab, Nemours Children's Health, Delaware and "pathogenic" from any submitter

Minimum review status of the submission from Molecular Diagnostics Lab, Nemours Children's Health, Delaware: Collection method of the submission from Molecular Diagnostics Lab, Nemours Children's Health, Delaware:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 37
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HGVS dbSNP gnomAD frequency
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812 0.00084
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00039
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_000116.5(TAFAZZIN):c.109+5G>A rs2148185111
NM_000116.5(TAFAZZIN):c.109+5G>C rs2148185111
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter) rs104894941
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys) rs104894942
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His) rs1060500044
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu) rs1060500044
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) rs1085307797
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) rs387907218
NM_000117.3(EMD):c.60del (p.Asn20fs) rs886041854
NM_000344.4(SMN1):c.785G>T (p.Ser262Ile) rs1554066659
NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys) rs104893922
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu) rs61749723
NM_001110792.2(MECP2):c.953G>A (p.Arg318His) rs61751443
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004333.6(BRAF):c.1497A>C (p.Lys499Asn) rs397507476
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) rs180177038
NM_004333.6(BRAF):c.1574T>C (p.Leu525Pro) rs869025340
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_006031.6(PCNT):c.398del (p.Phe133fs) rs1131691484
NM_006031.6(PCNT):c.5020G>T (p.Glu1674Ter) rs587784308
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.5(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_033360.4(KRAS):c.175G>T (p.Ala59Ser) rs121913528

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