ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS and "pathogenic" from any submitter

Minimum review status of the submission from Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS: Collection method of the submission from Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 19
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HGVS dbSNP gnomAD frequency
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys) rs762742204 0.00009
NR_023343.1:n.30G>A rs374299350 0.00005
NM_006371.5(CRTAP):c.634C>T (p.Arg212Ter) rs137853944 0.00004
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) rs769904764 0.00002
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser) rs776442314 0.00001
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg) rs1554935669 0.00001
NM_024312.5(GNPTAB):c.2956C>T (p.Arg986Cys) rs769587233 0.00001
NM_000199.5(SGSH):c.1375C>T (p.Gln459Ter) rs1567914459
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_001079802.2(FKTN):c.1106del (p.Phe369fs) rs750176716
NM_001164405.1(BHLHA9):c.220_221delinsTT (p.Glu74Leu) rs886037856
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) rs1569315876
NM_001257096.2(PAX1):c.1169_1173dup (p.Pro392fs) rs1555804780
NM_002485.5(NBN):c.935T>A (p.Leu312Ter) rs371480039
NM_024312.5(GNPTAB):c.1144A>C (p.Thr382Pro) rs112543062
NM_024312.5(GNPTAB):c.1408+1G>T rs1060499680
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs) rs281864996
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser) rs763283033

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