ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Center for Personalized Medicine, Children's Hospital Los Angeles and "likely pathogenic" from any submitter

Minimum review status of the submission from Center for Personalized Medicine, Children's Hospital Los Angeles: Collection method of the submission from Center for Personalized Medicine, Children's Hospital Los Angeles:
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_001083614.2(EARS2):c.322C>T (p.Arg108Trp) rs376103091 0.00020
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp) rs139430866 0.00001
NM_000252.3(MTM1):c.1262G>T (p.Arg421Leu) rs587783772
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_017934.7(PHIP):c.919_923del (p.Ile307fs) rs771126523
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009

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