ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from SingHealth Duke-NUS Institute of Precision Medicine and "pathogenic" from any submitter

Minimum review status of the submission from SingHealth Duke-NUS Institute of Precision Medicine: Collection method of the submission from SingHealth Duke-NUS Institute of Precision Medicine:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_016729.3(FOLR1):c.493+2T>C rs144637717 0.00134
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595 0.00002
NM_000317.3(PTS):c.155A>G (p.Asn52Ser) rs104894275 0.00001
NM_001352514.2(HLCS):c.2451-1G>A rs1158898827 0.00001
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter) rs751599203 0.00001
NM_002225.5(IVD):c.457-2A>G rs771914739

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