ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" and "other"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (other) minimum review status: Submission 2 (other) method:
ClinVar version:

Total variants with conflicting interpretations: 45

HGVS dbSNP
NM_000110.3(DPYD):c.2846A>T (p.Asp949Val) rs67376798
NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg) rs137852488
NM_000219.5(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000222.2(KIT):c.2446G>C (p.Asp816His) rs121913506
NM_000222.2(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter) rs199422211
NM_000350.2(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000372.4(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000463.2(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978
NM_000463.2(UGT1A1):c.674T>G (p.Val225Gly) rs35003977
NM_000492.3(CFTR):c.1210-11T>G rs73715573
NM_000517.4(HBA2):c.142G>C (p.Asp48His) rs281864834
NM_000517.6(HBA2):c.391G>C (p.Ala131Pro) rs41529844
NM_000518.4(HBB):c.137T>C (p.Phe46Ser) rs33978338
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4(HBB):c.374C>G (p.Pro125Arg) rs33983276
NM_000518.5(HBB):c.328G>A (p.Val110Met) rs33969677
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040
NM_000548.4(TSC2):c.2764_2765delTT (p.Leu922Valfs) rs1555508929
NM_000558.3(HBA1):c.287C>T (p.Pro96Leu) rs33931314
NM_000558.3(HBA1):c.389T>C (p.Leu130Pro) rs35993655
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569
NM_001127701.1(SERPINA1):c.227_229del (p.Phe76del) rs775982338
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met) rs199422213
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714
NM_001281723.2(BTD):c.1213T>G (p.Phe405Val) rs104893686
NM_001904.3(CTNNB1):c.101G>A (p.Gly34Glu) rs28931589
NM_001904.3(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001904.3(CTNNB1):c.134C>T (p.Ser45Phe) rs121913409
NM_001904.3(CTNNB1):c.94G>T (p.Asp32Tyr) rs28931588
NM_001904.3(CTNNB1):c.98C>G (p.Ser33Cys) rs121913400
NM_001904.3(CTNNB1):c.98C>T (p.Ser33Phe) rs121913400
NM_002834.4(PTPN11):c.1508G>T (p.Gly503Val) rs397507546
NM_005105.4(RBM8A):c.-21G>A rs139428292
NM_016579.3(CD320):c.262_264delGAG (p.Glu88del) rs150384171
UGT1A1*6 rs4148323

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