ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Human Genetics Bochum, Ruhr University Bochum and "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:
ClinVar version:
Total variants with conflicting interpretations: 21
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HGVS dbSNP gnomAD frequency
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser) rs267606941 0.00008
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro) rs764262446 0.00004
NM_004562.3(PRKN):c.633A>T (p.Lys211Asn) rs137853060 0.00002
NM_000179.3(MSH6):c.3514_3515insAA (p.Arg1172fs) rs63751327 0.00001
NM_000521.4(HEXB):c.1598G>A (p.Arg533His) rs1291555996 0.00001
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser) rs606231459 0.00001
NM_000038.6(APC):c.3133C>T (p.Gln1045Ter) rs2149885099
NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs) rs758337699
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.7204+1G>A rs1555394557
NM_000314.8(PTEN):c.885_886del (p.Leu295_Cys296insTer) rs1564568350
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg) rs1567187445
NM_001042492.3(NF1):c.3114-2A>G rs1428885377
NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp) rs876660190
NM_001083962.2(TCF4):c.1732C>T (p.Arg578Cys) rs2144406630
NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn) rs397516459
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter) rs748294403
NM_002224.4(ITPR3):c.4271C>T (p.Thr1424Met)
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys) rs587777428
NM_019032.6(ADAMTSL4):c.1143del (p.Glu382fs) rs1461665171

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