ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from SingHealth Duke-NUS Institute of Precision Medicine and "pathogenic" from Counsyl

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: 3
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HGVS dbSNP gnomAD frequency
NM_000360.4(TH):c.364C>T (p.Arg122Ter) rs771610752 0.00002
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994 0.00001
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254

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