ClinVar Miner

List of variants reported as uncertain significance for not provided by Geisinger Autism and Developmental Medicine Institute, Geisinger Health System

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Total variants: 54
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HGVS dbSNP gnomAD frequency
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_015461.3(ZNF521):c.2211T>G (p.Ile737Met) rs367580254 0.00019
NM_053004.3(GNB1L):c.763G>A (p.Gly255Arg) rs543257514 0.00005
NM_015378.4(VPS13D):c.8434T>C (p.Tyr2812His) rs774443148 0.00003
NM_001205293.3(CACNA1E):c.4777A>G (p.Ile1593Val) rs1159957403 0.00001
NM_005647.4(TBL1X):c.233C>T (p.Thr78Met) rs1464370959 0.00001
NM_014370.4(SRPK3):c.23G>A (p.Gly8Asp) rs1213993811 0.00001
NM_015902.6(UBR5):c.6590G>C (p.Gly2197Ala) rs1490547632 0.00001
GRCh37/hg19 22q11.23(chr22:23605575-23984194)x5
NC_000001.11:g.212950566_213249878del
NC_000006.12:g.107174371_107825273del
NM_000141.5(FGFR2):c.149A>T (p.Tyr50Phe) rs1398842143
NM_000718.4(CACNA1B):c.175T>C (p.Tyr59His) rs1564867162
NM_001005273.3(CHD3):c.887T>C (p.Leu296Pro) rs1567841825
NM_001008938.4(CKAP5):c.1625C>T (p.Pro542Leu) rs1565739639
NM_001046.3(SLC12A2):c.397G>C (p.Glu133Gln) rs1561645014
NM_001098797.2(TOX2):c.666G>T (p.Lys222Asn) rs1569140429
NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln) rs1567871600
NM_001253.4(CDC5L):c.698A>G (p.Gln233Arg) rs1561969930
NM_001318852.2(MAPK8IP3):c.1291C>T (p.Leu431Phe) rs1567198234
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_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_003185.4(TAF4):c.2160del (p.Val721fs) rs1568929831
NM_005577.4(LPA):c.2604-1G>C rs1287761737
NM_005647.4(TBL1X):c.1237-3C>G rs199823517
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_012281.3(KCND2):c.1238A>G (p.Tyr413Cys) rs1562923143
NM_012310.5(KIF4A):c.1745T>A (p.Leu582His) rs1045363046
NM_012310.5(KIF4A):c.3595G>A (p.Glu1199Lys) rs1569256395
NM_014253.3(TENM1):c.3143C>T (p.Thr1048Met) rs1569536039
NM_014712.3(SETD1A):c.503A>T (p.Gln168Leu) rs1567349896
NM_015001.3(SPEN):c.2194C>T (p.Arg732Ter) rs751475729
NM_015080.4(NRXN2):c.3403+5509C>T rs1565266940
NM_015279.2(TBC1D30):c.595-1G>T rs1295631624
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_018221.5(MOB1A):c.431_432del (p.Phe144fs) rs1558830933
NM_018897.3(DNAH7):c.10576C>T (p.Pro3526Ser) rs1559101390
NM_020719.3(PRR12):c.5187del (p.Glu1730fs) rs1568430264
NM_032236.8(USP48):c.1562C>T (p.Pro521Leu) rs1161705890
NM_138576.4(BCL11B):c.1097G>A (p.Arg366Gln) rs1566794698
NM_201599.3(ZMYM3):c.1470+6G>C rs1569225762
Single allele

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