ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Pathology and Clinical Laboratory Medicine, King Fahad Medical City and "uncertain significance" from any submitter

Minimum review status of the submission from Pathology and Clinical Laboratory Medicine, King Fahad Medical City: Collection method of the submission from Pathology and Clinical Laboratory Medicine, King Fahad Medical City:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819 0.00005
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243 0.00002
NM_000153.4(GALC):c.621G>A (p.Lys207=) rs1428763453
NM_000512.5(GALNS):c.1429_1455del (p.Glu477_Gln485del) rs1909818289
NM_015087.5(SPART):c.988A>G (p.Met330Val) rs1399213398

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