ClinVar Miner

Variants with conflicting interpretations "likely benign" from Paul Sabatier University EA-4555, Paul Sabatier University and "uncertain significance" from any submitter

Minimum review status of the submission from Paul Sabatier University EA-4555, Paul Sabatier University: Collection method of the submission from Paul Sabatier University EA-4555, Paul Sabatier University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val) rs372615343 0.00084
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn) rs142274954 0.00083
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp) rs200346497 0.00046
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg) rs201620755 0.00029
NM_000142.5(FGFR3):c.1879G>A (p.Glu627Lys) rs200849753 0.00007
NM_001128205.2(SULF1):c.529G>A (p.Gly177Ser) rs538017286 0.00004
NM_001291303.3(FAT4):c.7966A>C (p.Lys2656Gln) rs760398912 0.00002
NM_004312.3(ARR3):c.1052C>T (p.Pro351Leu) rs140505250
NM_177438.3(DICER1):c.2191G>A (p.Glu731Lys) rs869025262

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