ClinVar Miner

Variants with conflicting interpretations "benign" and "uncertain risk allele"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain risk allele) minimum review status: Submission 2 (uncertain risk allele) method:
ClinVar version:

Total variants with conflicting interpretations: 8

HGVS dbSNP gnomAD frequency
NM_003263.4(TLR1):c.1805G>T (p.Ser602Ile) rs5743618 0.50543
NM_001370466.1(NOD2):c.*397A>C rs3135499 0.45667
NM_000754.4(COMT):c.408C>G (p.Leu136=) rs4818 0.32165
NM_153218.4(LACC1):c.760A>G (p.Ile254Val) rs3764147 0.26736
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys) rs142993240 0.00430
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala) rs58806616 0.00296
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val) rs185341934 0.00096
NM_014009.4(FOXP3):c.959C>A (p.Thr320Lys) rs781881326 0.00001

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