ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Eurofins Ntd Llc (ga) and "drug response" from any submitter

Minimum review status of the submission from Eurofins Ntd Llc (ga): Collection method of the submission from Eurofins Ntd Llc (ga):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys) rs56005131 0.00011
NM_000110.4(DPYD):c.1774C>T (p.Arg592Trp) rs59086055 0.00006
NM_000169.3(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr) rs121909020
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748

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