ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Human Genetics Bochum, Ruhr University Bochum and "likely pathogenic" from any submitter

Minimum review status of the submission from Human Genetics Bochum, Ruhr University Bochum: Collection method of the submission from Human Genetics Bochum, Ruhr University Bochum:
Minimum review status of the other submission: Collection method of the other submission:
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Total variants with conflicting interpretations: 16
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256 0.00001
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr) rs63750437
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs) rs1833438306
NM_001048174.2(MUTYH):c.775del (p.Ala259fs) rs761468459
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser) rs80356734
NM_024675.4(PALB2):c.1947dup (p.Glu650fs) rs515726075

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