ClinVar Miner

Variants with conflicting interpretations "risk factor" and "benign"

Submission 1 (risk factor) minimum review status: Submission 1 (risk factor) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
ClinVar version:

Total variants with conflicting interpretations: 122

HGVS dbSNP gnomAD frequency
NM_016511.4(CLEC1A):c.77G>C (p.Gly26Ala) rs2306894 0.85307
NM_020975.6(RET):c.73+9277T>C rs2435357 0.79636
NM_000603.5(NOS3):c.894T>G (p.Asp298Glu) rs1799983 0.76319
NM_001994.3(F13B):c.344G>A (p.Arg115His) rs6003 0.75658
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu) rs1800470 0.60129
NM_001382817.3(AGT):c.-30-3273G>A rs5051 0.58201
NM_000029.4(AGT):c.803T>C (p.Met268Thr) rs699 0.57702
NM_001072.4(UGT1A6):c.862-10021T>G rs4124874 0.56024
NM_000796.6(DRD3):c.25G>A (p.Gly9Ser) rs6280 0.53929
NM_001136219.3(FCGR2A):c.500A>G (p.His167Arg) rs1801274 0.50935
NM_000069.2(CACNA1S):c.-476G>A rs2281845 0.50680
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_002075.4(GNB3):c.825C>T (p.Ser275=) rs5443 0.44600
NM_030803.7(ATG16L1):c.898A>G (p.Thr300Ala) rs2241880 0.43552
NM_003263.4(TLR1):c.743A>G (p.Asn248Ser) rs4833095 0.43490
NM_000446.7(PON1):c.575A>G (p.Gln192Arg) rs662 0.42215
NM_002087.4(GRN):c.*78C>T rs5848 0.41298
NM_000186.4(CFH):c.184G>A (p.Val62Ile) rs800292 0.40446
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) rs231775 0.39951
NM_053056.3(CCND1):c.723G>A (p.Pro241=) rs9344 0.38311
NM_005956.4(MTHFD1):c.1958G>A (p.Arg653Gln) rs2236225 0.38175
NM_001742.4(CALCR):c.1340T>C (p.Leu447Pro) rs1801197 0.35816
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990 0.33516
NM_000236.2(LIPC):c.-293G>A rs2070895 0.33491
NM_022167.4(XYLT2):c.2402C>G (p.Thr801Arg) rs6504649 0.33080
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) rs1044498 0.32168
NM_002392.6(MDM2):c.14+309T>G rs2279744 0.30651
NM_001277059.2(ERCC6):c.-76C>G rs3793784 0.29732
NM_000446.7(PON1):c.163T>A (p.Leu55Met) rs854560 0.29107
NM_000069.3(CACNA1S):c.258+57G>A rs1325310 0.28632
NM_003749.3(IRS2):c.3170G>A (p.Gly1057Asp) rs1805097 0.28401
NC_000017.11:g.34252769A>G rs1024611 0.27904
NM_173851.3(SLC30A8):c.973C>T (p.Arg325Trp) rs13266634 0.26559
NM_000743.5(CHRNA3):c.645C>T (p.Tyr215=) rs1051730 0.25972
NM_004360.4(CDH1):c.-124-161C>A rs16260 0.24474
NM_198437.3(AURKA):c.91T>A (p.Phe31Ile) rs2273535 0.23195
NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser) rs10490924 0.22973
NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) rs738409 0.21657
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) rs1805087 0.21137
NM_000685.5(AGTR1):c.*86A>C rs5186 0.20976
NM_000903.3(NQO1):c.559C>T (p.Pro187Ser) rs1800566 0.20869
NM_020975.6(RET):c.135= (p.Ala45=) rs1800858 0.20726
NM_002658.6(PLAU):c.422= (p.Leu141=) rs2227564 0.18805
NM_002711.4(PPP1R3A):c.2713G>T (p.Asp905Tyr) rs1799999 0.16138
NM_001709.5(BDNF):c.196G>A (p.Val66Met) rs6265 0.14533
NM_000064.4(C3):c.304C>G (p.Arg102Gly) rs2230199 0.14228
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_002875.5(RAD51):c.-98G>C rs1801320 0.12401
NM_001141945.3(ACTA2):c.-24+1440C>T rs2234767 0.10602
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968 0.10301
NM_025194.3(ITPKC):c.1155+9G>C rs28493229 0.10089
NM_005142.3(CBLIF):c.68A>G (p.Gln23Arg) rs35211634 0.09973
NM_001463.4(FRZB):c.598C>T (p.Arg200Trp) rs288326 0.08361
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412 0.07986
NM_017672.6(TRPM7):c.4445C>T (p.Thr1482Ile) rs8042919 0.07196
NM_016362.5(GHRL):c.214C>A (p.Leu72Met) rs696217 0.07013
NM_015967.8(PTPN22):c.1858= (p.Trp620=) rs2476601 0.06839
NM_000016.6(ACADM):c.351A>C (p.Thr117=) rs74090726 0.05204
NM_144687.4(NLRP12):c.1206C>G (p.Phe402Leu) rs34971363 0.05162
NM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter) rs16910526 0.04986
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys) rs1805007 0.04832
NM_000439.5(PCSK1):c.661A>G (p.Asn221Asp) rs6232 0.03201
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_004132.5(HABP2):c.1601G>A (p.Gly534Glu) rs7080536 0.02383
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_022166.4(XYLT1):c.343G>T (p.Ala115Ser) rs61758388 0.01927
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) rs28997576 0.01443
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352 0.01109
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555 0.01028
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln) rs121912497 0.01005
NM_001039569.2(AP1S3):c.11T>G (p.Phe4Cys) rs116107386 0.00898
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_001379610.1(SPINK1):c.56-37T>C rs17107318 0.00736
NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp) rs138292988 0.00725
NM_002273.4(KRT8):c.160T>C (p.Tyr54His) rs57749775 0.00715
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_001001331.4(ATP2B2):c.1891G>A (p.Val631Met) rs61736451 0.00554
NM_002386.4(MC1R):c.252C>A (p.Asp84Glu) rs1805006 0.00553
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710 0.00475
NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu) rs16991652 0.00468
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00386
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_000313.4(PROS1):c.1528G>A (p.Val510Met) rs138925964 0.00331
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile) rs72466496 0.00287
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) rs28932472 0.00286
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000361.3(THBD):c.127G>A (p.Ala43Thr) rs1800576 0.00255
NM_000064.4(C3):c.463A>C (p.Lys155Gln) rs147859257 0.00250
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776 0.00242
NM_005956.4(MTHFD1):c.878G>A (p.Arg293His) rs34181110 0.00241
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn) rs76466003 0.00230
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981 0.00177
NM_003265.3(TLR3):c.2224C>T (p.Leu742Phe) rs147431766 0.00153
NM_145725.3(TRAF3):c.352C>T (p.Arg118Trp) rs143813189 0.00147
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp) rs199538589 0.00063
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg) rs34778348 0.00058
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073 0.00019
NM_032737.4(LMNB2):c.1279G>A (p.Ala427Thr) rs57521499 0.00007
NM_001060.6(TBXA2R):c.179G>T (p.Arg60Leu) rs34377097 0.00002
GRCh37/hg19 5q34(chr5:160715688-160717804)
GRCh37/hg19 5q34(chr5:160796703-160797020)
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) rs193922357
NM_000789.3(ACE):c.2306-117_2306-116insAF118569.1:g.14094_14382
NM_001394783.1(CCR5):c.554_585del (p.Ser185fs) rs333
NM_001463.4(FRZB):c.970C>G (p.Arg324Gly) rs7775
NM_002458.2(MUC5B):c.-3133G>T rs35705950
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) rs71785313
NM_006208.3(ENPP1):c.2101-11del rs397832689
NM_006416.5(SLC35A1):c.752-157_752-156insCTCA rs10638303
NM_145899.3(HMGA1):c.136-14dup rs139876191
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255

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