ClinVar Miner

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

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

Total variants with conflicting interpretations: 11

HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.*1287C>T rs12516 0.30331
NM_001001331.4(ATP2B2):c.1437C>T (p.Asn479=) rs2289274 0.26684
NM_000354.5(SERPINA7):c.909G>T (p.Leu303Phe) rs1804495 0.11690
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925 0.01714
NM_022168.4(IFIH1):c.1641+1G>C rs35337543 0.00728
NM_001377265.1(MAPT):c.1630G>A (p.Ala544Thr) rs143624519 0.00179
NM_014009.4(FOXP3):c.176C>G (p.Ser59Cys) rs199917616 0.00151
NM_000017.4(ACADS):c.1108A>G (p.Met370Val) rs566325901 0.00009
NM_000458.4(HNF1B):c.660T>C (p.Asp220=) rs779375959 0.00008
NM_013254.4(TBK1):c.1839G>T (p.Leu613Phe) rs368859659 0.00003
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) rs71785313

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