ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from St. Jude Molecular Pathology, St. Jude Children's Research Hospital and "pathogenic" from any submitter

Minimum review status of the submission from St. Jude Molecular Pathology, St. Jude Children's Research Hospital: Collection method of the submission from St. Jude Molecular Pathology, St. Jude Children's Research Hospital:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 16
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471 0.00001
NM_000264.5(PTCH1):c.395-1G>A rs368869806 0.00001
NM_001211.6(BUB1B):c.580C>T (p.Arg194Ter) rs28989186 0.00001
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs) rs80359302
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000264.5(PTCH1):c.202-2A>G rs878853849
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.2106+2T>C rs1566235515
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter) rs137853293
NM_001042492.3(NF1):c.4430+1G>A rs773151680
NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter)
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn) rs80187739
NM_015450.3(POT1):c.1851_1852del (p.Asp617fs) rs758673417

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