ClinVar Miner

List of variants reported as likely benign for not specified by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949 0.02275
NM_013964.5(NRG1):c.502+31229G>C rs35641374 0.01949
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382 0.01709
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln) rs61995925 0.01476
NM_025055.5(CCDC33):c.1829C>T (p.Pro610Leu) rs77396610 0.01082
NM_130797.4(DPP6):c.227A>T (p.Asp76Val) rs572667303 0.01073
NM_000687.4(AHCY):c.-34C>T rs57344541 0.00825
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366 0.00773
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) rs111991705 0.00667
NM_017662.5(TRPM6):c.4988A>G (p.Gln1663Arg) rs55679040 0.00650
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362 0.00631
NM_022725.4(FANCF):c.557C>T (p.Ala186Val) rs113910234 0.00595
NM_015662.3(IFT172):c.3401G>T (p.Arg1134Leu) rs148624326 0.00526
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile) rs140990288 0.00518
NM_013314.4(BLNK):c.472G>T (p.Ala158Ser) rs148612299 0.00489
NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys) rs138139146 0.00483
NM_000100.4(CSTB):c.67-3T>C rs6383 0.00473
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys) rs146461956 0.00424
NM_001291303.3(FAT4):c.10853C>T (p.Thr3618Met) rs111423173 0.00407
NM_033100.4(CDHR1):c.1868A>G (p.Asn623Ser) rs137876961 0.00404
NM_018389.5(SLC35C1):c.1054C>T (p.Pro352Ser) rs145613857 0.00391
NM_002490.6(NDUFA6):c.322C>T (p.His108Tyr) rs113437301 0.00381
NM_015335.5(MED13L):c.3512A>G (p.Lys1171Arg) rs147863200 0.00377
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282 0.00375
NM_005430.4(WNT1):c.264T>A (p.Ser88Arg) rs61758378 0.00373
NM_014008.5(CCDC22):c.1636G>A (p.Asp546Asn) rs147222955 0.00356
NM_000101.4(CYBA):c.179A>C (p.Lys60Thr) rs11547387 0.00354
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_001372043.1(PCSK5):c.4361C>T (p.Thr1454Ile) rs61744763 0.00333
NM_001378609.3(OTOGL):c.929G>A (p.Gly310Glu) rs186616540 0.00327
NM_016529.6(ATP8A2):c.3075A>G (p.Lys1025=) rs62636611 0.00327
NM_001145026.2(PTPRQ):c.202G>A (p.Gly68Arg) rs61729303 0.00318
NM_003721.4(RFXANK):c.337+4C>T rs187331767 0.00316
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_198525.3(KIF7):c.2501A>G (p.Gln834Arg) rs138354681 0.00308
NM_000369.5(TSHR):c.881+3A>G rs186091357 0.00298
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126 0.00278
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593 0.00278
NM_016495.6(TBC1D7):c.413C>A (p.Ala138Asp) rs80189640 0.00278
NM_194248.3(OTOF):c.2215-80T>C rs143141993 0.00268
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) rs138161346 0.00241
NM_004999.4(MYO6):c.1224-4A>G rs144031818 0.00238
NM_033109.5(PNPT1):c.122G>C (p.Ser41Thr) rs140796438 0.00229
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704 0.00228
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg) rs74315416 0.00220
NM_002472.3(MYH8):c.2147T>A (p.Ile716Asn) rs115483891 0.00218
NM_052989.3(IFT122):c.2294A>C (p.Lys765Thr) rs146026277 0.00212
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala) rs141893001 0.00203
NM_004525.3(LRP2):c.13685T>C (p.Val4562Ala) rs142245618 0.00201
NM_001372078.1(REV3L):c.3979A>G (p.Ile1327Val) rs55717383 0.00191
NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg) rs139054881 0.00188
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys) rs138731505 0.00180
NM_001301202.2(RASAL1):c.1807T>C (p.Phe603Leu) rs142556970 0.00180
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val) rs144215383 0.00178
NM_004821.3(HAND1):c.247G>T (p.Gly83Trp) rs201302313 0.00175
NM_024079.5(ALG8):c.96-6G>C rs199911532 0.00160
NM_013275.6(ANKRD11):c.6323G>A (p.Gly2108Asp) rs201509886 0.00152
NM_001378609.3(OTOGL):c.1990C>T (p.Pro664Ser) rs76420383 0.00136
NM_001557.4(CXCR2):c.235G>A (p.Gly79Ser) rs149364972 0.00135
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) rs142967124 0.00134
NM_001253852.3(AP4B1):c.767C>T (p.Thr256Ile) rs143286419 0.00130
NM_033026.6(PCLO):c.14702A>G (p.Lys4901Arg) rs149360770 0.00127
NM_033063.2(MAP6):c.2219G>A (p.Arg740His) rs141659980 0.00120
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) rs148688181 0.00100
NM_005236.3(ERCC4):c.974-6T>C rs201181735 0.00091
NM_002968.3(SALL1):c.1878G>C (p.Glu626Asp) rs80248061 0.00089
NM_005921.2(MAP3K1):c.710A>G (p.Gln237Arg) rs55694258 0.00088
NM_032119.4(ADGRV1):c.9447+6G>A rs201481219 0.00083
NM_005562.3(LAMC2):c.3206C>T (p.Thr1069Met) rs139043074 0.00072
NM_001170687.4(MIB2):c.-151C>A rs199741261 0.00064
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) rs138817389 0.00063
NM_173653.4(SLC9A9):c.1486G>A (p.Asp496Asn) rs111291437 0.00061
NM_001379180.1(ESRRB):c.*1535G>A rs200237229 0.00056
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463 0.00056
NM_025132.4(WDR19):c.3918-6A>C rs199546190 0.00053
NM_001375834.1(WIPF1):c.208G>A (p.Gly70Ser) rs138276021 0.00051
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412 0.00051
NM_001077525.3(MTMR14):c.1151G>A (p.Ser384Asn) rs115607360 0.00047
NM_001142699.3(DLG2):c.1541T>C (p.Leu514Pro) rs201235627 0.00047
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp) rs61752456 0.00041
NM_001031679.3(MSRB3):c.530C>T (p.Pro177Leu) rs144038296 0.00041
NM_001813.3(CENPE):c.6907T>A (p.Phe2303Ile) rs141354341 0.00035
NM_005629.4(SLC6A8):c.1649C>G (p.Thr550Ser) rs199635059 0.00033
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) rs147143947 0.00032
NM_016379.4(VCX3A):c.461T>C (p.Leu154Pro) rs143802324 0.00019
NM_031407.7(HUWE1):c.5642A>G (p.Asn1881Ser) rs201965065 0.00015
NM_174912.4(FAAH2):c.575G>A (p.Arg192Gln) rs201024763 0.00005
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001 0.00003
NM_001351661.2(MACROD2):c.805G>A (p.Val269Met) rs776889043 0.00003
NM_006393.3(NEBL):c.1954A>C (p.Ile652Leu) rs200756166 0.00003
NM_001365925.2(NLGN1):c.705C>T (p.Leu235=) rs779083189 0.00002
NM_000033.4(ABCD1):c.1748T>A (p.Val583Glu) rs79383557
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000384.3(APOB):c.6895G>C (p.Asp2299His)
NM_000723.5(CACNB1):c.649-4C>A rs181552596
NM_001009899.4(USF3):c.4383GCA[11] (p.Gln1478del) rs10606566
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
NM_001039141.3(TRIOBP):c.1591G>A (p.Ala531Thr) rs201112075
NM_001039958.2(MESP2):c.552GGGGCA[1] (p.180QG[11]) rs56192595
NM_001128164.2(ATXN1):c.588GCA[14] (p.Gln208dup) rs193922926
NM_001164508.2(NEB):c.20467-5_20467-4dup rs10687343
NM_001348716.2(KDM6B):c.2253CAC[9] (p.Thr761_Thr762del) rs59627144
NM_001807.6(CEL):c.7C>T (p.Arg3Cys) rs201383133
NM_002641.4(PIGA):c.79A>G (p.Thr27Ala) rs864309579
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_003070.5(SMARCA2):c.669GCA[15] (p.Gln237_Gln238dup) rs113070757
NM_003738.5(PTCH2):c.1864C>A (p.His622Asn) rs11573586
NM_005026.5(PIK3CD):c.1690-6C>T rs879255387
NM_005529.7(HSPG2):c.7722A>C (p.Leu2574Phe) rs200565716
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006767.4(LZTR1):c.651+10_651+46del rs541944601
NM_014615.5(GSE1):c.1135_1152dup (p.373_378KERERE[3]) rs879255401
NM_018429.3(BDP1):c.6023-6C>T rs776058874
NM_020928.2(ZSWIM6):c.83GCG[7] (p.Gly33dup) rs528020839
NM_022117.4(TSPYL2):c.80CGC[8] (p.Pro33dup) rs781884842
NM_024079.5(ALG8):c.369-6A>G rs201483866
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr) rs147145506
NM_138425.4(C12orf57):c.229+25_229+43del rs199730337
NM_139242.4(MTFMT):c.646-4G>T rs200927452
NM_152414.5(BHLHE22):c.661AGCGGC[3] (p.219SG[4]) rs763704164
NM_201596.3(CACNB2):c.121-3_121-2insTTTTTGT rs769211879
m.3308T>C rs28358582

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