ClinVar Miner

List of variants reported as uncertain significance for Autism spectrum disorder by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_001003800.2(BICD2):c.1849del (p.Pro616_Leu617insTer)
NM_001110792.2(MECP2):c.556A>C (p.Lys186Gln)
NM_001161352.2(KCNMA1):c.280T>G (p.Ser94Ala)
NM_001197104.2(KMT2A):c.4054A>G (p.Ser1352Gly)
NM_001197104.2(KMT2A):c.9575A>C (p.Gln3192Pro)
NM_001220.5(CAMK2B):c.1528G>T (p.Glu510Ter)
NM_001256012.3(MYH10):c.3364G>T (p.Glu1122Ter)
NM_001282116.2(RFX3):c.1801T>C (p.Trp601Arg)
NM_001306215.2(ZNF827):c.590T>A (p.Leu197Ter)
NM_001318510.2(ACSL4):c.449A>T (p.His150Leu) rs374685754
NM_001330078.2(NRXN1):c.3071-1G>C
NM_001330195.2(NRXN3):c.1394C>T (p.Thr465Ile)
NM_001348800.3(ZBTB20):c.-342-50205del
NM_001375380.1(EBF3):c.1593_1605del (p.Ser532fs)
NM_001376.5(DYNC1H1):c.10195C>T (p.Gln3399Ter)
NM_001376.5(DYNC1H1):c.12419G>A (p.Arg4140His) rs770451110
NM_001376.5(DYNC1H1):c.12653C>T (p.Thr4218Met)
NM_001393499.1(BICRAL):c.579dup (p.Ile194fs)
NM_001416.4(EIF4A1):c.931C>T (p.Arg311Ter)
NM_002547.3(OPHN1):c.188C>G (p.Thr63Arg)
NM_002831.6(PTPN6):c.1206+2T>G
NM_002971.6(SATB1):c.2194G>T (p.Val732Phe)
NM_003070.5(SMARCA2):c.4045C>T (p.Arg1349Ter)
NM_003074.4(SMARCC1):c.2236C>T (p.Arg746Ter)
NM_003590.5(CUL3):c.883+3_883+6del
NM_004519.4(KCNQ3):c.1579T>C (p.Phe527Leu)
NM_004606.5(TAF1):c.2299C>T (p.Arg767Trp) rs2034289029
NM_004883.3(NRG2):c.872+1G>A
NM_005249.5(FOXG1):c.677A>C (p.Gln226Pro)
NM_005458.8(GABBR2):c.2660+2T>G
NM_005955.3(MTF1):c.1051C>T (p.Arg351Ter)
NM_006035.4(CDC42BPB):c.3304G>A (p.Val1102Ile)
NM_006180.6(NTRK2):c.1816G>A (p.Glu606Lys)
NM_006662.3(SRCAP):c.3734G>T (p.Gly1245Val)
NM_006924.5(SRSF1):c.70C>T (p.Pro24Ser)
NM_006950.3(SYN1):c.820C>T (p.His274Tyr)
NM_007074.4(CORO1A):c.314_315del (p.Thr105fs) rs2151062416
NM_012141.3(INTS6):c.976A>T (p.Lys326Ter)
NM_012280.4(FTSJ1):c.367G>A (p.Gly123Ser)
NM_014225.6(PPP2R1A):c.1694A>G (p.Glu565Gly)
NM_014704.4(CEP104):c.830A>T (p.Glu277Val)
NM_014727.3(KMT2B):c.428C>T (p.Ser143Phe)
NM_015317.5(PUM2):c.349-2A>G
NM_015570.4(AUTS2):c.2915A>T (p.Glu972Val)
NM_015981.4(CAMK2A):c.816G>A (p.Ser272=) rs2150279471
NM_019066.5(MAGEL2):c.843TCCAGG[1] (p.282PG[1])
NM_020699.4(GATAD2B):c.1433G>A (p.Arg478Gln)
NM_021964.3(ZNF148):c.1994C>G (p.Ser665Cys)
NM_022720.7(DGCR8):c.2060_2061del (p.His687fs)
NM_024570.4(RNASEH2B):c.845C>T (p.Ala282Val)
NM_025176.6(NINL):c.2086C>T (p.Gln696Ter)
NM_025176.6(NINL):c.2344G>T (p.Glu782Ter)
NM_031206.7(LAS1L):c.949G>A (p.Glu317Lys)
NM_031407.7(HUWE1):c.504+5G>A
NM_057175.5(NAA15):c.692-5A>G
NM_153252.5(BRWD3):c.4510G>A (p.Glu1504Lys)
NM_170606.3(KMT2C):c.817G>A (p.Val273Met)
NM_172107.4(KCNQ2):c.1603G>A (p.Gly535Ser)
NM_181303.2(NLGN3):c.2389C>T (p.Arg797Trp)
NM_181332.3(NLGN4X):c.542C>T (p.Thr181Ile)
NM_198880.3(QRICH1):c.728A>C (p.Gln243Pro)

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