ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" 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: 10
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HGVS dbSNP
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000360.4(TH):c.364C>T (p.Arg122Ter) rs771610752
NM_000360.4(TH):c.714_715del (p.Leu239fs) rs1564918287
NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436
NM_001163817.2(DHCR7):c.725G>A (p.Arg242His) rs80338857
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954
NM_004453.4(ETFDH):c.380T>A (p.Leu127His) rs121964956
NM_015697.8(COQ2):c.590G>A (p.Arg197His) rs121918231
NM_025243.4(SLC19A3):c.111del (p.Tyr38fs) rs1559252723

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