ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Database of Curated Mutations (DoCM) and "uncertain significance" from any submitter

Minimum review status of the submission from Database of Curated Mutations (DoCM): Collection method of the submission from Database of Curated Mutations (DoCM):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 17
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HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_000455.5(STK11):c.1088C>T (p.Thr363Ile) rs587778695 0.00004
NM_000455.5(STK11):c.971C>T (p.Pro324Leu) rs367807476 0.00001
NM_000222.3(KIT):c.1669T>G (p.Trp557Gly) rs121913235
NM_000222.3(KIT):c.1670G>C (p.Trp557Ser) rs1057520032
NM_000222.3(KIT):c.1675G>A (p.Val559Ile) rs121913520
NM_000222.3(KIT):c.1961T>C (p.Val654Ala) rs121913523
NM_000222.3(KIT):c.2009C>T (p.Thr670Ile) rs121913516
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000222.3(KIT):c.2466T>A (p.Asn822Lys) rs121913514
NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys) rs121913246
NM_000455.5(STK11):c.323A>G (p.Lys108Arg) rs1057520040
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_001754.5(RUNX1):c.485G>A (p.Arg162Lys) rs1057519750
NM_004333.6(BRAF):c.1742A>C (p.Asn581Thr) rs121913370
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_006206.6(PDGFRA):c.2536G>T (p.Asp846Tyr) rs121908588

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