ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from GeneDx and "risk factor" from any submitter

Minimum review status of the submission from GeneDx: Collection method of the submission from GeneDx:
Minimum review status of the other submission: Collection method of the other submission:
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Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_006262.4(PRPH):c.421G>T (p.Asp141Tyr) rs58599399 0.00373
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) rs28932472 0.00286
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000209.4(PDX1):c.52T>C (p.Cys18Arg) rs137852785 0.00011
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00011
NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys) rs104894387 0.00003
NM_020975.6(RET):c.1941C>T (p.Ile647=) rs75225191 0.00002
NM_020975.6(RET):c.938G>A (p.Arg313Gln) rs77702891 0.00002
NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu) rs121909641

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