ClinVar Miner

Variants with conflicting interpretations "pathogenic" from King Laboratory, University of Washington and "likely pathogenic" from any submitter

Minimum review status of the submission from King Laboratory, University of Washington: Collection method of the submission from King Laboratory, University of Washington:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 20
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser) rs1060499808 0.00001
NM_000051.4(ATM):c.-30-1G>T rs869312754
NM_000051.4(ATM):c.5497-2A>C rs786203796
NM_000051.4(ATM):c.6976-2A>C rs587782403
NM_000059.4(BRCA2):c.517-2A>G rs81002858
NM_000260.4(MYO7A):c.4951G>A (p.Gly1651Ser) rs1201586094
NM_000260.4(MYO7A):c.5095C>T (p.Gln1699Ter) rs530520654
NM_000441.2(SLC26A4):c.284G>A (p.Gly95Glu) rs2129309208
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg) rs1219724284
NM_000465.4(BARD1):c.159-1G>T rs879254139
NM_000465.4(BARD1):c.159T>G (p.Cys53Trp) rs201708813
NM_000465.4(BARD1):c.212G>A (p.Cys71Tyr) rs1064793959
NM_004360.5(CDH1):c.1565+1G>A rs587780113
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.4(BRCA1):c.5194-12G>A rs80358079
NM_032043.3(BRIP1):c.93+1G>A rs587782047

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