ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from St. Jude Molecular Pathology, St. Jude Children's Research Hospital and "likely benign" from Illumina Laboratory Services, Illumina

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_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073 0.00086
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met) rs138495222 0.00063
NM_207122.2(EXT2):c.1087G>A (p.Val363Met) rs138943091 0.00046
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu) rs141035971 0.00044
NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His) rs200069356 0.00036
NM_000127.3(EXT1):c.1066G>A (p.Val356Ile) rs61753260 0.00024
NM_014915.3(ANKRD26):c.153C>G (p.His51Gln) rs139049098 0.00021
NM_000245.4(MET):c.1412G>A (p.Gly471Glu) rs373312981 0.00016
NM_003924.4(PHOX2B):c.773C>A (p.Ala258Glu) rs747626591 0.00013
NM_004304.5(ALK):c.4795C>T (p.Pro1599Ser) rs373037272 0.00013
NM_003002.4(SDHD):c.53C>T (p.Ala18Val) rs192332761 0.00011
NM_000368.5(TSC1):c.2965G>T (p.Ala989Ser) rs537585211 0.00008
NM_000222.3(KIT):c.910A>G (p.Thr304Ala) rs202052259 0.00006
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_004064.5(CDKN1B):c.326T>A (p.Val109Asp) rs2066827

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