ClinVar Miner

List of variants reported as benign by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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ClinVar version:
Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_017848.6(FAM120C):c.2427+5G>T rs2495797 0.99864
NM_020894.4(UVSSA):c.1859C>T (p.Pro620Leu) rs28522910 0.69466
NM_006744.4(RBP4):c.355+123T>G rs36014035 0.39641
NM_000251.3(MSH2):c.2006-6T>C rs2303428 0.08349
NM_000260.4(MYO7A):c.468C>T (p.Ile156=) rs12420129 0.03116
NM_000271.5(NPC1):c.1947+17T>G rs879174633 0.02464
NM_182480.3(COQ6):c.41G>A (p.Trp14Ter) rs17094161 0.01687
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_182977.3(NNT):c.1098+17T>C rs16873430 0.01000
NM_001379029.1(CERT1):c.-168C>G rs5744540 0.00961
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850 0.00928
NM_139242.4(MTFMT):c.796C>T (p.Arg266Cys) rs35302908 0.00884
NM_001059.3(TACR3):c.857A>G (p.Lys286Arg) rs2276973 0.00877
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser) rs2229558 0.00834
NM_176811.2(NLRP8):c.142G>A (p.Val48Met) rs61738689 0.00793
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met) rs77351975 0.00719
NM_006063.3(KLHL41):c.863T>G (p.Leu288Arg) rs139415849 0.00597
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_001286577.2(C2CD3):c.704C>T (p.Pro235Leu) rs149910292 0.00372
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) rs76675748 0.00361
NM_001478.5(B4GALNT1):c.793G>A (p.Gly265Arg) rs144922627 0.00332
NM_005243.4(EWSR1):c.582-9C>G rs189387468 0.00302
NM_002427.4(MMP13):c.799+7C>T rs72987505 0.00298
NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser) rs76440173 0.00267
NM_004456.5(EZH2):c.484+13C>T rs140616632 0.00261
NM_052844.4(DYNC2I2):c.65C>T (p.Ala22Val) rs201715229 0.00258
NM_173728.4(ARHGEF15):c.1250G>T (p.Arg417Leu) rs142119277 0.00258
NM_001256545.2(MEGF10):c.218+17C>G rs72786483 0.00257
NM_014210.4(EVI2A):c.527A>G (p.Gln176Arg) rs144778786 0.00252
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971 0.00237
NM_173660.5(DOK7):c.1469C>T (p.Ser490Leu) rs77513082 0.00232
NM_000085.5(CLCNKB):c.1729G>A (p.Ala577Thr) rs189960510 0.00215
NM_002047.4(GARS1):c.1031+14T>G rs189589556 0.00213
NM_014946.4(SPAST):c.1493+18G>T rs189961829 0.00213
NM_005051.3(QARS1):c.117+17C>T rs202012811 0.00167
NM_006208.3(ENPP1):c.313+11_313+15del rs771304080 0.00163
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399 0.00132
NM_001845.6(COL4A1):c.904-9C>T rs201481886 0.00116
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385 0.00114
NM_019066.5(MAGEL2):c.385A>G (p.Met129Val) rs188762916 0.00109
NM_004217.4(AURKB):c.634G>C (p.Gly212Arg) rs149651741 0.00096
NM_005529.7(HSPG2):c.958+14G>A rs200930800 0.00092
NM_015072.5(TTLL5):c.1226G>A (p.Arg409Gln) rs142465256 0.00090
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met) rs72954276 0.00078
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) rs149707354 0.00056
NM_012330.4(KAT6B):c.1663G>A (p.Gly555Arg) rs146395020 0.00054
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00043
NM_003482.4(KMT2D):c.14643+12G>A rs186670730 0.00042
NM_004260.4(RECQL4):c.1576C>T (p.Leu526Phe) rs200732690 0.00041
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016 0.00030
NM_014491.4(FOXP2):c.1266+8C>T rs139649711 0.00030
NM_017780.4(CHD7):c.2831G>A (p.Arg944His) rs117506164 0.00030
NM_003070.5(SMARCA2):c.4595-7G>C rs199897032 0.00029
NM_007294.4(BRCA1):c.548-17G>T rs80358014 0.00028
NM_014159.7(SETD2):c.4918-20G>C rs375933330 0.00028
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg) rs370633684 0.00026
NM_002472.3(MYH8):c.3320del (p.Leu1107fs) rs751871946 0.00024
NM_181303.2(NLGN3):c.913+11C>G rs202038845 0.00018
NM_002024.6(FMR1):c.818A>G (p.Lys273Arg) rs139029212 0.00015
NM_016219.5(MAN1B1):c.587G>A (p.Arg196His) rs200410163 0.00015
NM_003705.5(SLC25A12):c.1171+17C>G rs370591049 0.00014
NM_173076.3(ABCA12):c.1376G>C (p.Ser459Thr) rs113112835 0.00014
NM_001267550.2(TTN):c.97193-16T>G rs371317486 0.00011
NM_002834.5(PTPN11):c.1224+15G>A rs373271861 0.00011
NM_001042492.3(NF1):c.7322-14C>T rs377244887 0.00009
NM_001846.4(COL4A2):c.1256C>T (p.Ala419Val) rs72657933 0.00009
NM_001099274.3(TINF2):c.62A>G (p.Gln21Arg) rs367835995 0.00006
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln) rs369346315 0.00006
NM_006516.4(SLC2A1):c.19-5C>T rs376653618 0.00006
NM_024120.5(NDUFAF5):c.222+8C>G rs113659919 0.00006
NM_001142864.4(PIEZO1):c.6679G>A (p.Ala2227Thr) rs776039915 0.00005
NM_001372574.1(ATXN2):c.3322A>G (p.Met1108Val) rs775411387 0.00005
NM_022042.4(SLC26A1):c.955G>A (p.Val319Met) rs558586992 0.00005
NM_000465.4(BARD1):c.1678-18C>G rs376045331 0.00004
NM_078480.3(PUF60):c.297+9C>T rs1028726810 0.00004
NM_182914.3(SYNE2):c.10432-17T>G rs376299946 0.00004
NM_000251.3(MSH2):c.2006-4G>A rs369853630 0.00001
NM_001015877.2(PHF6):c.240+10T>C rs750243844 0.00001
NM_001042492.3(NF1):c.1900A>G (p.Ile634Val) rs745906742 0.00001
NM_001136193.2(FASTKD2):c.76T>C (p.Trp26Arg) rs536180346 0.00001
GRCh37/hg19 8q23.3(chr8:114378494-114450308)
NM_000123.4(ERCC5):c.788G>A (p.Arg263Gln) rs61749896
NM_000186.4(CFH):c.1336+2322TTCT[2] rs151137602
NM_000474.4(TWIST1):c.256_276del (p.Gly86_Gly92del) rs544465774
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_001111125.3(IQSEC2):c.3229C>A (p.Arg1077Ser) rs782569979
NM_001370100.5(ZMYND11):c.1342_1344del (p.Pro448del) rs1250648883
NM_001377405.1(ATXN7):c.2654_2656del (p.Leu885del) rs748138546
NM_001754.5(RUNX1):c.1277_1278insCCCCCCCCCCC (p.Arg427fs) rs2056451263
NM_001845.6(COL4A1):c.2083C>G (p.Pro695Ala) rs1878244032
NM_003690.5(PRKRA):c.66-4_66-3insTCCCAGAGCAGGCACCGCCGAGGCCCTGCCGCTGGAGCGCGAGGACAGTGGGACCTT rs1553599483
NM_004407.4(DMP1):c.844C>A (p.Leu282Ile) rs141979823
NM_004993.6(ATXN3):c.892CAG[12] (p.Gln302_Gln305dup) rs193922928
NM_014795.4(ZEB2):c.593-18_593-17insTG rs776927209
NM_015158.5(KANK1):c.3554-9_3554-5del rs58169581
NM_016032.4(ZDHHC9):c.354G>C (p.Gln118His) rs1927947896
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_144599.5(NIPA1):c.24GGC[9] (p.Ala16dup) rs531550505
NM_152564.5(VPS13B):c.9331_9332insTTTTTTTTTT (p.Tyr3111fs) rs757435621
NM_182977.3(NNT):c.80G>A (p.Arg27His) rs34241095
NM_201400.4(EEF2KMT):c.*1074C>T rs1957081691
NM_206809.4(MOG):c.88+18dup rs749231725

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