ClinVar Miner

Variants with conflicting interpretations "likely benign" from Invitae and "risk factor" from any submitter

Minimum review status of the submission from Invitae: Collection method of the submission from Invitae:
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_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
NM_001571.6(IRF3):c.829G>A (p.Ala277Thr) rs143769046 0.00460
NM_006262.4(PRPH):c.421G>T (p.Asp141Tyr) rs58599399 0.00373
NM_000514.4(GDNF):c.277C>T (p.Arg93Trp) rs36119840 0.00272
NM_182919.4(TICAM1):c.1702G>A (p.Ala568Thr) rs143679494 0.00269
NM_005956.4(MTHFD1):c.878G>A (p.Arg293His) rs34181110 0.00241
NM_003265.3(TLR3):c.889C>G (p.Leu297Val) rs35311343 0.00165
NM_207034.3(EDN3):c.670G>A (p.Ala224Thr) rs11570351 0.00164
NM_145725.3(TRAF3):c.352C>T (p.Arg118Trp) rs143813189 0.00147
NM_001077415.3(CRELD1):c.985C>T (p.Arg329Cys) rs28942091 0.00070
NM_031935.3(HMCN1):c.16034A>G (p.Gln5345Arg) rs121434382 0.00070
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp) rs199538589 0.00063
NM_003265.3(TLR3):c.2600G>A (p.Arg867Gln) rs199768900 0.00061
NM_001077415.3(CRELD1):c.932C>T (p.Thr311Ile) rs28942092 0.00055
NM_021912.5(GABRB3):c.44C>T (p.Ser15Phe) rs121913126 0.00016
NM_032737.4(LMNB2):c.265-6C>T rs267607650 0.00015
NM_003661.4(APOL1):c.1104T>G (p.Ala368=) rs1428826948 0.00001

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