ClinVar Miner

Variants with conflicting interpretations "likely benign" from Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre and "benign" from any submitter

Minimum review status of the submission from Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre: Collection method of the submission from Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_000379.4(XDH):c.3276+12A>G rs1366813 0.75380
NM_000152.5(GAA):c.1327-18A>G rs2278619 0.71811
NM_001384474.1(LOXHD1):c.4530+107A>G rs1450425 0.66249
NM_198576.4(AGRN):c.3516+10G>C rs76264143 0.05034
NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser) rs111784356 0.02010
NM_020639.3(RIPK4):c.1884C>T (p.Ser628=) rs55812846 0.00492
NM_001374828.1(ARID1B):c.2654C>T (p.Ser885Leu) rs150140314 0.00108
NM_001193315.2(VIPAS39):c.136G>A (p.Val46Met) rs148360332 0.00106
NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val) rs751726519 0.00004
NM_001039348.3(EFEMP1):c.*6del rs200536754
NM_198576.4(AGRN):c.2457G>C (p.Gly819=) rs112039851

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