ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Leiden Open Variation Database and "likely pathogenic" from any submitter

Minimum review status of the submission from Leiden Open Variation Database: Collection method of the submission from Leiden Open Variation Database:
Minimum review status of the other submission: Collection method of the other submission:
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Total variants with conflicting interpretations: 25
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HGVS dbSNP gnomAD frequency
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His) rs374334794 0.00003
NM_000322.5(PRPH2):c.454A>G (p.Met152Val) rs146703538 0.00002
NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly) rs767471467 0.00001
NM_001018115.3(FANCD2):c.1279G>T (p.Val427Phe) rs529893298 0.00001
NM_001018115.3(FANCD2):c.491+1G>A rs943009372 0.00001
NM_021922.3(FANCE):c.1114-8G>A rs878854342 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_000135.4(FANCA):c.1292dup (p.Leu432fs) rs1416639878
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu) rs1060501879
NM_000135.4(FANCA):c.189+2T>A rs2041094594
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs) rs1555547935
NM_000135.4(FANCA):c.2316+1_2316+3del rs2039275264
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser) rs545772434
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3934+1G>A rs2062087795
NM_000135.4(FANCA):c.4010+2T>C rs2062067746
NM_000135.4(FANCA):c.4261-2A>G rs915983602
NM_000135.4(FANCA):c.710-10G>A rs2040524006
NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr) rs786205579
NM_000322.5(PRPH2):c.522G>C (p.Trp174Cys) rs1064793237
NM_000322.5(PRPH2):c.595A>G (p.Asn199Asp) rs757988141
NM_000322.5(PRPH2):c.995T>A (p.Val332Glu) rs1582759492
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr) rs1057519413
NM_005431.2(XRCC2):c.651_652del (p.Cys217_Asp218delinsTer) rs746142129
NM_058216.3(RAD51C):c.485G>A (p.Gly162Glu) rs35151472

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