ClinVar Miner

Variants with conflicting interpretations "likely risk allele" and "uncertain significance"

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

Total variants with conflicting interpretations: 25

HGVS dbSNP gnomAD frequency
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) rs73885319 0.06773
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_005419.4(STAT2):c.250C>A (p.Gln84Lys) rs150901100 0.00024
NM_000017.4(ACADS):c.1108A>G (p.Met370Val) rs566325901 0.00009
NM_182919.4(TICAM1):c.1774G>A (p.Gly592Arg) rs74359855 0.00009
NM_001378454.1(ALMS1):c.12103G>A (p.Ala4035Thr) rs757364858 0.00006
NM_002582.4(PARN):c.19A>C (p.Asn7His) rs1371498176 0.00004
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) rs886045364 0.00002
NM_000545.8(HNF1A):c.340C>T (p.Arg114Cys) rs774996577 0.00001
NM_001289125.3(IFNAR2):c.437A>G (p.Asn146Ser) rs549962048 0.00001
NM_001378454.1(ALMS1):c.12164G>A (p.Arg4055Gln) rs752714698 0.00001
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223 0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188 0.00001
NM_000162.5(GCK):c.1150G>A (p.Ala384Thr) rs1376620210
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp) rs2096271482
NM_000162.5(GCK):c.1207C>G (p.Arg403Gly) rs193922271
NM_000162.5(GCK):c.554T>G (p.Leu185Arg) rs1583599749
NM_000162.5(GCK):c.941T>C (p.Leu314Pro) rs1554334886
NM_000207.3(INS):c.188-3C>A rs886048111
NM_000458.4(HNF1B):c.157G>T (p.Gly53Trp) rs2034119580
NM_000458.4(HNF1B):c.202G>C (p.Gly68Arg) rs767576616
NM_000545.8(HNF1A):c.281C>T (p.Pro94Leu) rs193922593
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) rs71785313
NM_005419.4(STAT2):c.1466C>T (p.Pro489Leu) rs138681270
NM_138554.5(TLR4):c.526_544del (p.Asn176fs) rs749154041

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.