ClinVar Miner

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

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

Total variants with conflicting interpretations: 24

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_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

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