ClinVar Miner

Variants with conflicting interpretations "benign" from GeneDx and "risk factor" from any submitter

Minimum review status of the submission from GeneDx: Collection method of the submission from GeneDx:
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ClinVar version:
Total variants with conflicting interpretations: 63
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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_001382817.3(AGT):c.-30-3273G>A rs5051 0.58201
NM_000029.4(AGT):c.803T>C (p.Met268Thr) rs699 0.57702
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_000446.7(PON1):c.575A>G (p.Gln192Arg) rs662 0.42215
NM_002087.4(GRN):c.*78C>T rs5848 0.41298
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_000446.7(PON1):c.163T>A (p.Leu55Met) rs854560 0.29107
NM_000069.3(CACNA1S):c.258+57G>A rs1325310 0.28632
NM_004360.4(CDH1):c.-124-161C>A rs16260 0.24474
NM_198437.3(AURKA):c.91T>A (p.Phe31Ile) rs2273535 0.23195
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) rs1805087 0.21137
NM_000685.5(AGTR1):c.*86A>C rs5186 0.20976
NM_020975.6(RET):c.135= (p.Ala45=) rs1800858 0.20726
NM_002711.4(PPP1R3A):c.2713G>T (p.Asp905Tyr) rs1799999 0.16138
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_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968 0.10301
NM_005142.3(CBLIF):c.68A>G (p.Gln23Arg) rs35211634 0.09973
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_000016.6(ACADM):c.351A>C (p.Thr117=) rs74090726 0.05204
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_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_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
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_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile) rs72466496 0.00287
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776 0.00242
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981 0.00177
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp) rs199538589 0.00063
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) rs193922357
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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