ClinVar Miner

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

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

Total variants with conflicting interpretations: 57

HGVS dbSNP gnomAD frequency
NM_000041.4(APOE):c.388T>C (p.Cys130Arg) rs429358 0.16059
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
UGT1A1*6 rs4148323 0.00891
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570 0.00137
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
NM_000402.4(G6PD):c.632A>T (p.Asp211Val) rs5030872 0.00048
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) rs35003977 0.00034
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714 0.00033
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00008
NM_000463.3(UGT1A1):c.524T>A (p.Leu175Gln) rs72551341 0.00005
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 0.00004
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569 0.00004
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342 0.00003
NM_000517.4(HBA2):c.142G>C (p.Asp48His) rs281864834 0.00003
NM_000517.6(HBA2):c.178G>C (p.Gly60Arg) rs41328049 0.00003
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686 0.00002
NM_000295.5(SERPINA1):c.646+1G>T rs751235320 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000508.3(FGA):c.112A>G (p.Arg38Gly) rs121909608 0.00001
NM_000508.3(FGA):c.92G>T (p.Gly31Val) rs121909605 0.00001
NM_000517.6(HBA2):c.391G>C (p.Ala131Pro) rs41529844 0.00001
NM_000558.3(HBA1):c.389T>C (p.Leu130Pro) rs35993655 0.00001
NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg) rs137852488
NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys) rs387906468
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) rs137852317
NM_000402.4(G6PD):c.482G>T (p.Gly161Val) rs137852341
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_000508.3(FGA):c.1717C>T (p.Arg573Cys) rs121909613
NM_000517.4(HBA2):c.427T>G (p.Ter143Glu) rs41464951
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr) rs41417548
NM_000517.6(HBA2):c.91_93del (p.Glu31del) rs281864560
NM_000518.4(HBB):c.137T>C (p.Phe46Ser) rs33978338
NM_000518.4(HBB):c.191A>G (p.His64Arg) rs33985544
NM_000518.4(HBB):c.266T>C (p.Leu89Pro) rs33940204
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.19GAG[1] (p.Glu8del) rs63750928
NM_000518.5(HBB):c.200A>C (p.Lys67Thr) rs35939489
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) rs33961459
NM_000518.5(HBB):c.431A>G (p.His144Arg) rs33918338
NM_000558.3(HBA1):c.134C>T (p.Pro45Leu) rs33978134
NM_000558.3(HBA1):c.287C>T (p.Pro96Leu) rs33931314
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp) rs63749948
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) rs28931589
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr) rs28931588
NM_001904.4(CTNNB1):c.98C>G (p.Ser33Cys) rs121913400
NM_005141.4(FGB):c.130C>T (p.Arg44Cys) rs121909616
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
Single allele

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