ClinVar Miner

Variants with conflicting interpretations "uncertain significance" and "drug response"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (drug response) minimum review status: Submission 2 (drug response) method:

Total variants with conflicting interpretations: 59

HGVS dbSNP gnomAD frequency
NM_000754.4(COMT):c.408C>G (p.Leu136=) rs4818 0.32293
NM_024006.4(VKORC1):c.-1639G>A rs9923231 0.31727
NM_000745.4(CHRNA5):c.1192G>A (p.Asp398Asn) rs16969968 0.23879
NC_000006.12:g.31575254G>A rs1800629 0.13769
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412 0.07986
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
UGT1A1*6 rs4148323 0.01140
NM_000690.4(ALDH2):c.1510G>A (p.Glu504Lys) rs671 0.00596
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00109
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00037
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00030
NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys) rs56005131 0.00011
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381 0.00009
NM_000110.4(DPYD):c.1774C>T (p.Arg592Trp) rs59086055 0.00006
NM_000222.3(KIT):c.2881G>A (p.Gly961Ser) rs773828910 0.00003
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819 0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000914.5(OPRM1):c.754G>A (p.Val252Met) rs200245799 0.00002
NM_000106.6(CYP2D6):c.145G>A (p.Val49Met) rs1040704095 0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000169.3(GLA):c.361G>A (p.Ala121Thr) rs782197638 0.00001
NM_000169.3(GLA):c.724A>G (p.Ile242Val) rs397515873 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_001130009.3(GEN1):c.1981C>T (p.Leu661Phe) rs1322007623 0.00001
NM_001130009.3(GEN1):c.2633T>C (p.Leu878Pro) rs762704406 0.00001
NM_001348946.2(ABCB1):c.2914G>A (p.Glu972Lys) rs770657790 0.00001
NM_001348946.2(ABCB1):c.658G>A (p.Ala220Thr) rs758834776 0.00001
NM_004924.6(ACTN4):c.170C>T (p.Thr57Met) rs768656011 0.00001
NC_012920.1(MT-RNR1):m.1095T>C rs267606618
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162
NM_000169.3(GLA):c.212A>G (p.Glu71Gly) rs781927744
NM_000169.3(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.3(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000169.3(GLA):c.926C>T (p.Ala309Val) rs869312155
NM_000169.3(GLA):c.947T>C (p.Val316Ala) rs869312157
NM_000169.3(GLA):c.968C>G (p.Pro323Arg) rs869312159
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr) rs121909020
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys) rs118192167
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.982C>T (p.Arg328Trp) rs193922762
NM_000789.4(ACE):c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT rs1799752
NM_000964.4(RARA):c.826C>T (p.Arg276Trp) rs786205678
NM_001130009.3(GEN1):c.761T>C (p.Val254Ala) rs1164759608
NM_001348946.2(ABCB1):c.1320G>A (p.Met440Ile) rs756800740
NM_001348946.2(ABCB1):c.3352C>G (p.Gln1118Glu) rs1584829608
NM_001348946.2(ABCB1):c.521G>A (p.Arg174Gln) rs201280497
NM_001348946.2(ABCB1):c.632G>A (p.Gly211Asp) rs1584886037
NM_002292.4(LAMB2):c.350C>G (p.Pro117Arg) rs756338774
NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser) rs28929495
NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del) rs121913421
NM_006231.4(POLE):c.857C>G (p.Pro286Arg) rs1057519943
NM_014625.4(NPHS2):c.304G>A (p.Glu102Lys) rs1553315157
NM_207391.3(RGS9BP):c.614dup (p.Cys206fs) rs757764760
UGT1A1*37 rs3064744

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