ClinVar Miner

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

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

Total variants with conflicting interpretations: 109

HGVS dbSNP
CYP2A6*3
NC_012920.1:m.1555A>G rs267606617
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412
NM_000110.3(DPYD):c.1679T>G (p.Ile560Ser) rs55886062
NM_000110.3(DPYD):c.1905+1G>A rs3918290
NM_000110.3(DPYD):c.299_302delTCAT (p.Phe100Serfs) rs72549309
NM_000130.4(F5):c.1601G= (p.Arg534=) rs6025
NM_000169.2(GLA):c.104G>A (p.Gly35Glu) rs869312137
NM_000169.2(GLA):c.1067G>C (p.Arg356Pro) rs869312163
NM_000169.2(GLA):c.107T>G (p.Leu36Trp) rs869312138
NM_000169.2(GLA):c.190A>T (p.Ile64Phe) rs869312139
NM_000169.2(GLA):c.256T>C (p.Tyr86His) rs869312140
NM_000169.2(GLA):c.272T>A (p.Ile91Asn) rs869312141
NM_000169.2(GLA):c.540G>T (p.Leu180Phe) rs869312145
NM_000169.2(GLA):c.561G>A (p.Met187Ile) rs869312146
NM_000169.2(GLA):c.59C>A (p.Ala20Asp) rs869312134
NM_000169.2(GLA):c.610T>C (p.Trp204Arg) rs869312148
NM_000169.2(GLA):c.62T>C (p.Leu21Pro) rs869312135
NM_000169.2(GLA):c.638A>G (p.Lys213Arg) rs869312149
NM_000169.2(GLA):c.680G>C (p.Arg227Pro) rs104894840
NM_000169.2(GLA):c.724A>G (p.Ile242Val) rs397515873
NM_000169.2(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000169.2(GLA):c.784T>C (p.Trp262Arg) rs869312154
NM_000169.2(GLA):c.806T>G (p.Val269Gly) rs28935488
NM_000169.2(GLA):c.950T>G (p.Ile317Ser) rs869312158
NM_000169.2(GLA):c.980A>G (p.Gln327Arg) rs869312160
NM_000169.2(GLA):c.980A>T (p.Gln327Leu) rs869312160
NM_000169.2(GLA):c.98A>G (p.Asp33Gly) rs869312136
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828
NM_000492.3(CFTR):c.1040G>A (p.Arg347His) rs77932196
NM_000492.3(CFTR):c.1055G>A (p.Arg352Gln) rs121908753
NM_000492.3(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1624G>T (p.Gly542Ter) rs113993959
NM_000492.3(CFTR):c.1645A>C (p.Ser549Arg) rs121908757
NM_000492.3(CFTR):c.1646G>A (p.Ser549Asn) rs121908755
NM_000492.3(CFTR):c.1647T>G (p.Ser549Arg) rs121909005
NM_000492.3(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.3(CFTR):c.1652G>A (p.Gly551Asp) rs75527207
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.2834C>T (p.Ser945Leu) rs397508442
NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.3(CFTR):c.3199G>A (p.Ala1067Thr) rs121909020
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.330C>A (p.Asp110Glu) rs397508537
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.3731G>A (p.Gly1244Glu) rs267606723
NM_000492.3(CFTR):c.3752G>A (p.Ser1251Asn) rs74503330
NM_000492.3(CFTR):c.3763T>C (p.Ser1255Pro) rs121909041
NM_000492.3(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898
NM_000492.3(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.3(CFTR):c.532G>A (p.Gly178Arg) rs80282562
NM_000492.3(CFTR):c.577G>A (p.Glu193Lys) rs397508759
NM_000492.3(CFTR):c.617T>G (p.Leu206Trp) rs121908752
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.14387A>G (p.Tyr4796Cys) rs118192167
NM_000540.2(RYR1):c.14477C>T (p.Thr4826Ile) rs121918595
NM_000540.2(RYR1):c.14545G>A (p.Val4849Ile) rs118192168
NM_000540.2(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.2(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.2(RYR1):c.1565A>C (p.Tyr522Ser) rs118192162
NM_000540.2(RYR1):c.1589G>A (p.Arg530His) rs111888148
NM_000540.2(RYR1):c.1654C>T (p.Arg552Trp) rs193922770
NM_000540.2(RYR1):c.1840C>T (p.Arg614Cys) rs118192172
NM_000540.2(RYR1):c.487C>T (p.Arg163Cys) rs118192161
NM_000540.2(RYR1):c.6487C>T (p.Arg2163Cys) rs118192175
NM_000540.2(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.2(RYR1):c.6502G>A (p.Val2168Met) rs118192176
NM_000540.2(RYR1):c.7007G>A (p.Arg2336His) rs112563513
NM_000540.2(RYR1):c.7042_7044delGAG (p.Glu2348del) rs121918596
NM_000540.2(RYR1):c.7048G>A (p.Ala2350Thr) rs193922802
NM_000540.2(RYR1):c.7063C>T (p.Arg2355Trp) rs193922803
NM_000540.2(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593
NM_000540.2(RYR1):c.7304G>A (p.Arg2435His) rs28933396
NM_000540.2(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.2(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816
NM_000540.2(RYR1):c.7361G>A (p.Arg2454His) rs118192122
NM_000540.2(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397
NM_000540.2(RYR1):c.7373G>A (p.Arg2458His) rs121918594
NM_000540.2(RYR1):c.742G>A (p.Gly248Arg) rs1801086
NM_000540.2(RYR1):c.7522C>G (p.Arg2508Gly) rs118192178
NM_000540.2(RYR1):c.7523G>A (p.Arg2508His) rs193922818
NM_000546.5(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.5(TP53):c.853G>A (p.Glu285Lys) rs112431538
NM_000903.2(NQO1):c.559C>T (p.Pro187Ser) rs1800566
NM_002524.4(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_003977.3(AIP):c.911G>A (p.Arg304Gln) rs104894190
NM_005228.4(EGFR):c.2155G>A (p.Gly719Ser) rs28929495
NM_005228.4(EGFR):c.2155G>T (p.Gly719Cys) rs28929495
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_005957.4(MTHFR):c.665C>T (p.Ala222Val) rs1801133
NM_006218.3(PIK3CA):c.1633G>C (p.Glu545Gln) rs104886003
NM_024006.5(VKORC1):c.106G>T (p.Asp36Tyr) rs61742245
NM_033360.3(KRAS):c.38G>T (p.Gly13Val) rs112445441
UGT1A1*28 rs3064744
UGT1A1*6 rs4148323
m.1095T>C rs267606618
m.1494C>T rs267606619
m.827A>G rs28358569

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