ClinVar Miner

Variants with conflicting interpretations "uncertain significance" and "association"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (association) minimum review status: Submission 2 (association) method:
ClinVar version:

Total variants with conflicting interpretations: 19

HGVS dbSNP gnomAD frequency
NM_198253.2(TERT):c.-1382T>C rs2735940 0.49546
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) rs1805008 0.04851
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys) rs1805007 0.04832
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
UGT1A1*6 rs4148323 0.00891
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter) rs28362286 0.00262
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_005505.5(SCARB1):c.523A>G (p.Thr175Ala) rs187831231 0.00020
NM_025129.5(FUZ):c.446C>T (p.Thr149Ile) rs762455950 0.00005
NM_001142966.3(GREB1L):c.5651G>A (p.Arg1884His) rs1372640211 0.00002
NM_006361.6(HOXB13):c.853del (p.Ter285LysextTer?) rs77179853
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro) rs35490401
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
Single allele
UGT1A1*28 rs3064744

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