ClinVar Miner

Variants with conflicting interpretations "drug response" and "likely pathogenic"

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

Total variants with conflicting interpretations: 54

HGVS dbSNP
NM_000110.3(DPYD):c.1679T>G (p.Ile560Ser) rs55886062
NM_000110.3(DPYD):c.2846A>T (p.Asp949Val) rs67376798
NM_000141.4(FGFR2):c.1645A>C (p.Asn549His) rs1057519045
NM_000169.2(GLA):c.1055C>G (p.Ala352Gly) rs869312162
NM_000169.2(GLA):c.1124G>C (p.Gly375Ala) rs869312164
NM_000169.2(GLA):c.1176G>T (p.Arg392Ser) rs869312165
NM_000169.2(GLA):c.1196G>C (p.Trp399Ser) rs782449839
NM_000169.2(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.2(GLA):c.337T>A (p.Phe113Ile) rs869312142
NM_000169.2(GLA):c.593T>C (p.Ile198Thr) rs727503950
NM_000169.2(GLA):c.610T>C (p.Trp204Arg) rs869312148
NM_000169.2(GLA):c.641C>T (p.Pro214Leu) rs869312150
NM_000169.2(GLA):c.657C>G (p.Ile219Met) rs869312151
NM_000169.2(GLA):c.761T>C (p.Val254Ala) rs869312153
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.3(CFTR):c.166G>A (p.Glu56Lys) rs397508256
NM_000492.3(CFTR):c.200C>T (p.Pro67Leu) rs368505753
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.2930C>T (p.Ser977Phe) rs141033578
NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.3(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988
NM_000492.3(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542
NM_000492.3(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772
NM_000492.3(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.3(CFTR):c.3763T>C (p.Ser1255Pro) rs121909041
NM_000492.3(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000540.2(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.2(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_000540.2(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.2(RYR1):c.1589G>A (p.Arg530His) rs111888148
NM_000540.2(RYR1):c.1597C>A (p.Arg533Ser) rs193922768
NM_000540.2(RYR1):c.1598G>A (p.Arg533His) rs144336148
NM_000540.2(RYR1):c.1840C>T (p.Arg614Cys) rs118192172
NM_000540.2(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.2(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816
NM_000540.2(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397
NM_000540.2(RYR1):c.9310G>A (p.Glu3104Lys) rs193922832
NM_000546.5(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.5(TP53):c.832C>A (p.Pro278Thr) rs17849781
NM_000546.5(TP53):c.853G>A (p.Glu285Lys) rs112431538
NM_002524.4(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_005228.4(EGFR):c.2155G>C (p.Gly719Arg) rs28929495
NM_005228.4(EGFR):c.2155G>T (p.Gly719Cys) rs28929495
NM_005228.4(EGFR):c.2303_2311dupGCGTGGACA (p.Asp770_Asn771insSerValAsp) rs397517109
NM_005228.4(EGFR):c.2369C>T (p.Thr790Met) rs121434569
NM_005228.4(EGFR):c.2573T>G (p.Leu858Arg) rs121434568
NM_005228.4(EGFR):c.2582T>A (p.Leu861Gln) rs121913444
NM_006218.3(PIK3CA):c.1633G>C (p.Glu545Gln) rs104886003
NM_006231.3(POLE):c.857C>G (p.Pro286Arg) rs1057519943
NM_033360.3(KRAS):c.38G>T (p.Gly13Val) rs112445441
UGT1A1*6 rs4148323

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.