ClinVar Miner

List of variants reported as benign by Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire

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Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_080701.4(TREX2):c.259C>T (p.Arg87Ter) rs141078733 0.00448
NM_016024.4(RBMX2):c.860G>A (p.Arg287His) rs5977266 0.00293
NM_015687.5(FILIP1):c.1483A>G (p.Lys495Glu) rs35464830 0.00257
NM_032621.4(BEX2):c.-65G>A rs751303856 0.00168
NM_001141917.2(SPATA31F1):c.2554G>A (p.Val852Ile) rs527869852 0.00154
NM_001141917.2(SPATA31F1):c.3619A>C (p.Thr1207Pro) rs373701758 0.00145
NM_001141917.2(SPATA31F1):c.3986A>C (p.Asn1329Thr) rs374244221 0.00144
NM_138420.4(AHNAK2):c.2695G>T (p.Val899Leu) rs199974920 0.00106
NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys) rs147207100 0.00096
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu) rs146400809 0.00088
NM_001394560.1(ZMAT1):c.1984C>T (p.Pro662Ser) rs138810471 0.00080
NM_018323.4(PI4K2B):c.861G>T (p.Gln287His) rs143048917 0.00065
NM_004006.3(DMD):c.8308G>A (p.Asp2770Asn) rs138399787 0.00063
NM_022065.5(THADA):c.2468C>T (p.Ser823Leu) rs201555818 0.00057
NM_020160.2(MEIS3):c.202C>A rs140643747 0.00054
NM_052909.5(PLEKHG4B):c.3830G>A (p.Arg1277Gln) rs116480186 0.00034
NM_001377405.1(ATXN7):c.211T>G (p.Ser71Ala) rs201561286 0.00030
NM_138420.4(AHNAK2):c.5025G>C (p.Lys1675Asn) rs202246282 0.00030
NM_053281.3(DACH2):c.1261C>T (p.Pro421Ser) rs765715387 0.00027
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val) rs200193877 0.00024
NM_001324144.2(ZNF41):c.677A>T (p.His226Leu) rs368078047 0.00023
NM_001308172.2(ACSM2A):c.72C>G (p.Tyr24Ter) rs142460751 0.00022
NM_015687.5(FILIP1):c.923C>T (p.Ser308Leu) rs371050880 0.00020
NM_001401501.2(MUC16):c.7075A>G (p.Ile2359Val) rs200019597 0.00019
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys) rs369717556 0.00010
NM_015687.5(FILIP1):c.3316G>C (p.Gly1106Arg) rs374887916 0.00010
NM_001382273.1(TNK2):c.1777G>A (p.Val593Met) rs375205272 0.00009
NM_145037.4(NXPE3):c.956G>C (p.Gly319Ala) rs140150886 0.00009
NM_001382273.1(TNK2):c.766C>T (p.Arg256Cys) rs767408627 0.00006
NM_001988.4(EVPL):c.314G>A (p.Arg105Gln) rs755302072 0.00006
NM_002536.4(TBC1D25):c.1145T>G (p.Leu382Arg) rs782184431 0.00006
NM_203408.4(FAM47A):c.1310C>T (p.Thr437Met) rs373238471 0.00005
NM_022065.5(THADA):c.362G>A (p.Arg121His) rs769958179 0.00004
NM_022444.4(SLC13A1):c.838A>G (p.Asn280Asp) rs138184794 0.00004
NM_022835.3(PLEKHG2):c.4073T>C (p.Leu1358Ser) rs373442104 0.00004
NM_052909.5(PLEKHG4B):c.2635G>A (p.Glu879Lys) rs568109142 0.00004
NM_001308172.2(ACSM2A):c.1414C>T (p.Arg472Trp) rs755234990 0.00003
NM_001394639.1(MROH2A):c.1952G>A (p.Arg651Gln) rs863223390 0.00003
NM_001988.4(EVPL):c.4126G>T (p.Val1376Leu) rs777067468 0.00003
NM_000090.4(COL3A1):c.2110G>A (p.Glu704Lys) rs863223362 0.00002
NM_001378328.1(CELSR1):c.6224C>T (p.Ala2075Val) rs367691326 0.00002
NM_001378328.1(CELSR1):c.7268C>T (p.Thr2423Met) rs551678757 0.00002
NM_001828.5(CLC):c.389T>G rs117361485 0.00002
NM_002918.5(RFX1):c.2695G>A (p.Gly899Ser) rs766888168 0.00002
NM_022444.4(SLC13A1):c.277A>C (p.Ile93Leu) rs761906487 0.00002
NM_001256155.3(ARMCX4):c.574A>T (p.Thr192Ser) rs863223372 0.00001
NM_001267550.2(TTN):c.1051G>A (p.Val351Met) rs772889673 0.00001
NM_001377405.1(ATXN7):c.844G>A (p.Val282Met) rs863223393 0.00001
NM_001382508.1(DROSHA):c.755G>A (p.Arg252Gln) rs201151813 0.00001
NM_001395548.1(PLA2G4E):c.1630A>G (p.Met544Val) rs863223366 0.00001
NM_001401501.2(MUC16):c.26300C>T (p.Ala8767Val) rs863223378 0.00001
NM_003796.3(URI1):c.698C>T (p.Thr233Ile) rs863223392 0.00001
NM_004714.3(DYRK1B):c.625G>A (p.Val209Ile) rs556237495 0.00001
NM_007050.6(PTPRT):c.4240C>T (p.Arg1414Cys) rs746059787 0.00001
NM_015158.5(KANK1):c.5del (p.Ala2fs) rs761345356 0.00001
NM_017551.3(GRID1):c.442C>T (p.Arg148Cys) rs201182031 0.00001
NM_017711.4(GDPD2):c.395C>T (p.Ala132Val) rs775565226 0.00001
NM_000292.3(PHKA2):c.2951T>C (p.Ile984Thr) rs863223371
NM_001024611.3(LRRC66):c.1823del (p.Gly608fs) rs863223368
NM_001141917.2(SPATA31F1):c.2452G>T (p.Val818Leu) rs548036648
NM_001141917.2(SPATA31F1):c.2939A>T (p.Asn980Ile) rs571906331
NM_001252641.2(URI1):c.33C>A (p.His11Gln) rs756055523
NM_001256789.3(CACNA1F):c.1535G>A (p.Arg512His) rs146847449
NM_001388459.1(FRMPD3):c.2504G>T (p.Arg835Leu) rs776539807
NM_001394639.1(MROH2A):c.2837_2838dup (p.Leu947fs) rs863223391
NM_001401501.2(MUC16):c.10420T>C (p.Ser3474Pro) rs863223379
NM_001401501.2(MUC16):c.2620_2621del (p.Ser874_Pro875insTer) rs747068729
NM_001401501.2(MUC16):c.26486C>T (p.Pro8829Leu) rs78804712
NM_001401501.2(MUC16):c.7099del (p.Ser2367fs) rs759867982
NM_002116.8(HLA-A):c.383G>A (p.Gly128Glu) rs199474493
NM_002116.8(HLA-A):c.658G>C (p.Asp220His) rs281864764
NM_004538.6(NAP1L3):c.1310C>G (p.Ala437Gly) rs863223375
NM_006068.5(TLR6):c.1729_1730del (p.Met577fs) rs863223364
NM_007131.5(ZNF75D):c.1100G>A (p.Cys367Tyr) rs782539023
NM_014336.5(AIPL1):c.1004C>A (p.Pro335His) rs863223363
NM_015158.5(KANK1):c.3992C>G (p.Ser1331Cys) rs376262343
NM_015884.4(MBTPS2):c.1013A>T (p.His338Leu) rs863223373
NM_017551.3(GRID1):c.437C>T (p.Pro146Leu) rs863223382
NM_017554.3(PARP14):c.1455T>A (p.Ser485Arg) rs863223384
NM_017554.3(PARP14):c.2083C>A (p.Pro695Thr) rs863223385
NM_018323.4(PI4K2B):c.10C>A (p.Pro4Thr) rs863223383
NM_018706.7(DHTKD1):c.2402+1G>C rs767066938
NM_020719.3(PRR12):c.4397_4398insCCCTCA (p.Pro1467_Gln1468insHisPro) rs863223365
NM_022835.3(PLEKHG2):c.1230C>A (p.Phe410Leu) rs863223387
NM_032857.5(LACTB):c.46G>C (p.Gly16Arg) rs34925488
NM_033274.5(ADAM19):c.2563C>T (p.Pro855Ser) rs863223367
NM_145037.4(NXPE3):c.452_459del (p.Leu151fs) rs863223380
NM_145037.4(NXPE3):c.463del (p.Ala155fs) rs863223381
NM_181877.4(ZSCAN2):c.152_153del (p.Pro51fs) rs863223360

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