ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Centogene AG - the Rare Disease Company and "pathogenic" from any submitter

Minimum review status of the submission from Centogene AG - the Rare Disease Company: Collection method of the submission from Centogene AG - the Rare Disease Company:
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_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473 0.00362
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_033419.5(PGAP3):c.*559C>T rs183208638 0.00300
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207 0.00014
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg) rs199573774 0.00014
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys) rs776421777 0.00001
NM_002334.4(LRP4):c.3830G>A (p.Arg1277His) rs746136135 0.00001
NM_016035.5(COQ4):c.458C>T (p.Ala153Val) rs757173567 0.00001
NM_000374.5(UROD):c.995G>A (p.Arg332His) rs121918066
NM_002334.4(LRP4):c.3697G>A (p.Glu1233Lys) rs786205153
NM_003504.5(CDC45):c.333C>T (p.Asn111=) rs748749078
NM_053013.4(ENO3):c.452A>G (p.Asn151Ser) rs560867570
NM_176787.5(PIGN):c.1694G>T (p.Arg565Leu) rs201835155

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