ClinVar Miner

Variants with conflicting interpretations "benign" from Illumina Laboratory Services, Illumina and "likely pathogenic" from any submitter

Minimum review status of the submission from Illumina Laboratory Services, Illumina: Collection method of the submission from Illumina Laboratory Services, Illumina:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 25
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HGVS dbSNP gnomAD frequency
NM_000376.3(VDR):c.2T>C (p.Met1Thr) rs2228570 0.66221
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_014625.4(NPHS2):c.-51G>T rs12406197 0.23878
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874 0.02502
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_006269.2(RP1):c.616-6T>C rs186571865 0.00458
NM_000187.4(HGD):c.260A>C (p.Glu87Ala) rs35702995 0.00416
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00386
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr) rs121908326 0.00147
NM_000527.5(LDLR):c.1194C>T (p.Ile398=) rs13306498 0.00138
NM_000342.4(SLC4A1):c.2716G>C (p.Glu906Gln) rs199694087 0.00128
NM_017534.6(MYH2):c.4774C>A (p.Leu1592Met) rs138393827 0.00068
NM_001011658.4(TRAPPC2):c.-97G>A rs746032983 0.00034
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala) rs200662973 0.00034
NM_020632.3(ATP6V0A4):c.1029+5G>A rs147476317 0.00011
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) rs199505265 0.00009
NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter) rs118031911 0.00008
NM_001127898.4(CLCN5):c.925C>T (p.Arg309Cys) rs782056386 0.00006
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149 0.00003
NM_000493.4(COL10A1):c.772C>T (p.Arg258Ter) rs765628474 0.00003
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005 0.00003
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro) rs115532916

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