ClinVar Miner

List of variants reported as uncertain significance by Geisinger Autism and Developmental Medicine Institute, Geisinger Health System

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Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu) rs189438534 0.00147
NM_001543.5(NDST1):c.239G>A (p.Arg80His) rs145390254 0.00138
NM_018136.5(ASPM):c.5452C>T (p.Arg1818Cys) rs41299625 0.00095
NM_015461.3(ZNF521):c.698C>T (p.Ser233Phe) rs200375993 0.00036
NM_015378.4(VPS13D):c.9799C>T (p.Arg3267Trp) rs140427465 0.00035
NM_006493.4(CLN5):c.1045C>T (p.Pro349Ser) rs41287036 0.00026
NM_000071.3(CBS):c.856A>G (p.Ile286Val) rs147040567 0.00020
NM_015461.3(ZNF521):c.2211T>G (p.Ile737Met) rs367580254 0.00018
NM_130837.3(OPA1):c.344C>T (p.Ala115Val) rs200983556 0.00013
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571 0.00012
NM_003907.3(EIF2B5):c.1265G>A (p.Arg422Gln) rs372497906 0.00011
NM_000071.3(CBS):c.847G>A (p.Glu283Lys) rs765811825 0.00008
NM_053004.3(GNB1L):c.763G>A (p.Gly255Arg) rs543257514 0.00005
NM_080680.3(COL11A2):c.587T>C (p.Leu196Pro) rs150982987 0.00004
NM_000489.6(ATRX):c.4070A>G (p.Lys1357Arg) rs1064796812 0.00003
NM_015378.4(VPS13D):c.8434T>C (p.Tyr2812His) rs774443148 0.00003
NM_017755.6(NSUN2):c.1039G>A (p.Asp347Asn) rs779298195 0.00003
NM_000426.4(LAMA2):c.7630A>G (p.Ile2544Val) rs147430700 0.00002
NM_005647.4(TBL1X):c.1237-3C>G rs199823517 0.00002
NM_014875.3(KIF14):c.3114+3A>C rs776623187 0.00002
NM_000702.4(ATP1A2):c.889G>A (p.Ala297Thr) rs181618883 0.00001
NM_001205293.3(CACNA1E):c.4777A>G (p.Ile1593Val) rs1159957403 0.00001
NM_001206999.2(CIT):c.4130C>T (p.Pro1377Leu) rs779515686 0.00001
NM_001271938.2(MEGF8):c.6295C>T (p.Pro2099Ser) rs1471300485 0.00001
NM_003907.3(EIF2B5):c.349C>G (p.Leu117Val) rs1365253275 0.00001
NM_004771.4(MMP20):c.1139G>A (p.Arg380Gln) rs767478911 0.00001
NM_005647.4(TBL1X):c.233C>T (p.Thr78Met) rs1464370959 0.00001
NM_006265.3(RAD21):c.1349G>A (p.Arg450His) rs1051321465 0.00001
NM_007315.4(STAT1):c.1765G>T (p.Ala589Ser) rs745491762 0.00001
NM_012310.5(KIF4A):c.3595G>A (p.Glu1199Lys) rs1569256395 0.00001
NM_014370.4(SRPK3):c.23G>A (p.Gly8Asp) rs1213993811 0.00001
NM_015279.2(TBC1D30):c.595-1G>T rs1295631624 0.00001
NM_015570.4(AUTS2):c.3169G>A (p.Gly1057Ser) rs1057522609 0.00001
NM_015902.6(UBR5):c.6590G>C (p.Gly2197Ala) rs1490547632 0.00001
NM_017866.6(TMEM70):c.140G>A (p.Gly47Glu) rs761956518 0.00001
NM_032236.8(USP48):c.1562C>T (p.Pro521Leu) rs1161705890 0.00001
GRCh37/hg19 22q11.23(chr22:23605575-23984194)x5
NC_000001.11:g.212950566_213249878del
NC_000006.12:g.107174371_107825273del
NC_000023.11:g.820337_843143del
NM_000141.5(FGFR2):c.149A>T (p.Tyr50Phe) rs1398842143
NM_000194.3(HPRT1):c.536T>C (p.Val179Ala) rs1569360120
NM_000264.5(PTCH1):c.842T>C (p.Met281Thr) rs1564055682
NM_000426.4(LAMA2):c.5598G>T (p.Met1866Ile) rs1554289926
NM_000540.3(RYR1):c.3823A>G (p.Thr1275Ala) rs1568469574
NM_000718.4(CACNA1B):c.175T>C (p.Tyr59His) rs1564867162
NM_000965.5(RARB):c.409C>T (p.Arg137Ter) rs1553624279
NM_001005273.3(CHD3):c.887T>C (p.Leu296Pro) rs1567841825
NM_001008537.3(NEXMIF):c.2605T>C (p.Ser869Pro) rs1216179072
NM_001008938.4(CKAP5):c.1625C>T (p.Pro542Leu) rs1565739639
NM_001040142.2(SCN2A):c.220G>A (p.Val74Met) rs1553564231
NM_001046.3(SLC12A2):c.397G>C (p.Glu133Gln) rs1561645014
NM_001083962.2(TCF4):c.-21+2T>A rs1568471128
NM_001098797.2(TOX2):c.666G>T (p.Lys222Asn) rs1569140429
NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln) rs1567871600
NM_001163278.2(TENM1):c.3143C>T (p.Thr1048Met) rs1569536039
NM_001165963.4(SCN1A):c.5882T>C (p.Ile1961Thr) rs760676898
NM_001253.4(CDC5L):c.698A>G (p.Gln233Arg) rs1561969930
NM_001271938.2(MEGF8):c.6715C>T (p.Arg2239Cys) rs1174809027
NM_001278116.2(L1CAM):c.704T>C (p.Met235Thr) rs1557092782
NM_001318852.2(MAPK8IP3):c.1291C>T (p.Leu431Phe) rs1567198234
NM_001348768.2(HECW2):c.2167G>C (p.Glu723Gln) rs1559036568
NM_001393769.1(MED12L):c.348G>T (p.Trp116Cys) rs1560069336
NM_001394998.1(TANC2):c.3689G>T (p.Gly1230Val) rs1567997298
NM_001394998.1(TANC2):c.5597T>G (p.Phe1866Cys) rs1568008510
NM_001395490.1(TRERF1):c.3000del (p.Pro1001fs) rs1562112466
NM_001543.5(NDST1):c.39C>G (p.His13Gln) rs777877507
NM_001655.5(ARCN1):c.853A>G (p.Thr285Ala) rs1565363815
NM_001669.4(ARSD):c.42del (p.Arg15fs) rs1220210716
NM_001670.3(ARVCF):c.726_730del (p.Gly243fs) rs768824268
NM_002744.6(PRKCZ):c.778C>T (p.Arg260Cys) rs887317345
NM_002880.4(RAF1):c.1871C>G (p.Ser624Cys) rs1057524239
NM_002941.4(ROBO1):c.3503_3505dup (p.Gly1168dup) rs148625921
NM_003024.3(ITSN1):c.1222G>T (p.Glu408Ter) rs1569146163
NM_003070.5(SMARCA2):c.1240G>A (p.Ala414Thr) rs1554618664
NM_003185.4(TAF4):c.2160del (p.Val721fs) rs1568929831
NM_004859.4(CLTC):c.4388_4389del (p.Val1463fs) rs1567971357
NM_005120.3(MED12):c.628G>C (p.Ala210Pro) rs1379201163
NM_005577.4(LPA):c.2604-1G>C rs1287761737
NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln) rs1131691266
NM_006265.3(RAD21):c.1852A>G (p.Ser618Gly) rs1554610467
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_012281.3(KCND2):c.1238A>G (p.Tyr413Cys) rs1562923143
NM_012309.5(SHANK2):c.2333C>G (p.Ala778Gly) rs1555156140
NM_012309.5(SHANK2):c.3704A>G (p.Lys1235Arg) rs1591488559
NM_012310.5(KIF4A):c.1745T>A (p.Leu582His) rs1045363046
NM_014712.3(SETD1A):c.503A>T (p.Gln168Leu) rs1567349896
NM_014875.3(KIF14):c.4276A>C (p.Lys1426Gln) rs1085307854
NM_015001.3(SPEN):c.2194C>T (p.Arg732Ter) rs751475729
NM_015080.4(NRXN2):c.3403+5509C>T rs1565266940
NM_015100.4(POGZ):c.634G>A (p.Val212Met) rs1553226286
NM_015114.3(ANKLE2):c.1687G>A (p.Glu563Lys) rs1334824087
NM_015215.4(CAMTA1):c.229A>G (p.Asn77Asp) rs1557636777
NM_016019.5(LUC7L2):c.367-443_763del
NM_016284.5(CNOT1):c.1188T>A (p.Tyr396Ter) rs1567420855
NM_017619.4(RNPC3):c.177del (p.Asp60fs) rs1557754254
NM_017755.6(NSUN2):c.1112G>A (p.Gly371Glu) rs1560975832
NM_018221.5(MOB1A):c.431_432del (p.Phe144fs) rs1558830933
NM_018897.3(DNAH7):c.10576C>T (p.Pro3526Ser) rs1559101390
NM_019066.5(MAGEL2):c.353C>T (p.Pro118Leu) rs1131691985
NM_020719.3(PRR12):c.5187del (p.Glu1730fs) rs1568430264
NM_057175.5(NAA15):c.266T>C (p.Leu89Pro) rs1560965164
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_133259.4(LRPPRC):c.2981G>C (p.Arg994Thr) rs912716897
NM_133259.4(LRPPRC):c.592_603del
NM_133433.4(NIPBL):c.2584A>G (p.Lys862Glu) rs1554017428
NM_138576.4(BCL11B):c.1097G>A (p.Arg366Gln) rs1566794698
NM_177559.3(CSNK2A1):c.1145C>T (p.Pro382Leu) rs1064796883
NM_178012.5(TUBB2B):c.491T>C (p.Met164Thr) rs1561826815
NM_181332.3(NLGN4X):c.2259G>C (p.Arg753Ser) rs886042929
NM_201599.3(ZMYM3):c.1470+6G>C rs1569225762
Single allele

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