ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Kids Research, The Children's Hospital at Westmead and "likely pathogenic" from any submitter

Minimum review status of the submission from Kids Research, The Children's Hospital at Westmead: Collection method of the submission from Kids Research, The Children's Hospital at Westmead:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys) rs201408725 0.00006
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu) rs761879076 0.00004
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr) rs201941476 0.00003
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NM_016373.4(WWOX):c.183C>A (p.Tyr61Ter) rs759766243
NM_016373.4(WWOX):c.409+1G>C rs1060502727
NM_016373.4(WWOX):c.606-1G>A rs730882215
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_016373.4(WWOX):c.918del (p.Glu306fs) rs1057518795

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