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:
ClinVar version:

Total variants with conflicting interpretations: 49

HGVS dbSNP
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819
NM_000110.3(DPYD):c.1905+1G>A rs3918290
NM_000110.3(DPYD):c.2846A>T (p.Asp949Val) rs67376798
NM_000110.3(DPYD):c.703C>T (p.Arg235Trp) rs1801266
NM_000169.2(GLA):c.1055C>G (p.Ala352Gly) rs869312162
NM_000169.2(GLA):c.1196G>C (p.Trp399Ser) rs782449839
NM_000169.2(GLA):c.212A>G (p.Glu71Gly) rs781927744
NM_000169.2(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.2(GLA):c.361G>A (p.Ala121Thr) rs782197638
NM_000169.2(GLA):c.461T>C (p.Ile154Thr) rs869312143
NM_000169.2(GLA):c.490G>T (p.Val164Leu) rs869312144
NM_000169.2(GLA):c.588A>C (p.Arg196Ser) rs869312147
NM_000169.2(GLA):c.593T>C (p.Ile198Thr) rs727503950
NM_000169.2(GLA):c.683A>G (p.Asn228Ser) rs869312152
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.7C>G (p.Leu3Val) rs869312133
NM_000169.2(GLA):c.865A>G (p.Ile289Val) rs140329381
NM_000169.2(GLA):c.8T>C (p.Leu3Pro) rs150547672
NM_000169.2(GLA):c.926C>T (p.Ala309Val) rs869312155
NM_000169.2(GLA):c.937G>A (p.Asp313Asn) rs28935490
NM_000169.2(GLA):c.943G>A (p.Asp315Asn) rs869312156
NM_000169.2(GLA):c.947T>C (p.Val316Ala) rs869312157
NM_000169.2(GLA):c.968C>G (p.Pro323Arg) rs869312159
NM_000169.2(GLA):c.989A>G (p.Gln330Arg) rs869312161
NM_000222.2(KIT):c.2881G>A (p.Gly961Ser) rs773828910
NM_000367.4(TPMT):c.420-4G>A rs56019966
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828
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.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.330C>A (p.Asp110Glu) rs397508537
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.3(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
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.1598G>A (p.Arg533His) rs144336148
NM_000546.5(TP53):c.215C>G (p.Pro72Arg) rs1042522
NM_001008503.2(OPRM1):c.118A>G (p.Asn40Asp) rs1799971
NM_002454.2(MTRR):c.66A>G (p.Ile22Met) rs1801394
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.2126A>G (p.Glu709Gly) rs397517085
NM_005957.4(MTHFR):c.665C>T (p.Ala222Val) rs1801133
NM_006231.3(POLE):c.857C>G (p.Pro286Arg) rs1057519943
m.1095T>C rs267606618

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