ClinVar Miner

List of variants studied for ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 133
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HGVS dbSNP gnomAD frequency
NM_001282531.3(ADNP):c.*50A>C rs761240 0.94627
NM_001282531.3(ADNP):c.2568C>T (p.Val856=) rs1062651 0.10055
NM_001282531.3(ADNP):c.2067C>T (p.Gly689=) rs17790938 0.09265
NM_001282531.3(ADNP):c.2076G>A (p.Lys692=) rs6096168 0.03400
NM_001282531.3(ADNP):c.1075A>G (p.Ile359Val) rs78300927 0.00553
NM_001282531.3(ADNP):c.2475G>T (p.Gly825=) rs148502910 0.00534
NM_001282531.3(ADNP):c.2666G>C (p.Ser889Thr) rs34342624 0.00359
NM_001282531.3(ADNP):c.2743G>A (p.Val915Ile) rs150900514 0.00236
NM_001282531.3(ADNP):c.2931A>G (p.Gly977=) rs144684998 0.00132
NM_001282531.3(ADNP):c.2943G>T (p.Val981=) rs143103063 0.00107
NM_001282531.3(ADNP):c.3279C>T (p.Ala1093=) rs142247083 0.00097
NM_001282531.3(ADNP):c.2317A>G (p.Lys773Glu) rs140169338 0.00059
NM_001282531.3(ADNP):c.1752A>G (p.Gln584=) rs139237825 0.00050
NM_001282531.3(ADNP):c.3058C>G (p.Gln1020Glu) rs150374762 0.00046
NM_001282531.3(ADNP):c.2310T>C (p.Phe770=) rs189595164 0.00021
NM_001282531.3(ADNP):c.2561C>T (p.Ser854Phe) rs376827094 0.00021
NM_001282531.3(ADNP):c.2749C>T (p.Pro917Ser) rs142988030 0.00019
NM_001282531.3(ADNP):c.1212G>C (p.Ser404=) rs139951165 0.00016
NM_001282531.3(ADNP):c.2782G>C (p.Asp928His) rs76458950 0.00014
NM_001282531.3(ADNP):c.3185T>C (p.Ile1062Thr) rs745861253 0.00011
NM_001282531.3(ADNP):c.356A>G (p.Lys119Arg) rs182284347 0.00010
NM_001282531.3(ADNP):c.2617G>T (p.Asp873Tyr) rs147299402 0.00008
NM_001282531.3(ADNP):c.2815A>C (p.Ile939Leu) rs201104498 0.00008
NM_001282531.3(ADNP):c.2150G>A (p.Arg717His) rs756595568 0.00004
NM_001282531.3(ADNP):c.393G>A (p.Pro131=) rs201360495 0.00004
NM_001282531.3(ADNP):c.1855G>T (p.Val619Phe) rs1057522545 0.00003
NM_001282531.3(ADNP):c.2189G>A (p.Arg730Gln) rs377051194 0.00003
NM_001282531.3(ADNP):c.662T>G (p.Ile221Ser) rs747105829 0.00002
NM_001282531.3(ADNP):c.3095C>G (p.Ser1032Cys) rs559915015 0.00001
NM_001282531.3(ADNP):c.481G>A (p.Glu161Lys) rs1981147662 0.00001
NM_001282531.3(ADNP):c.-5-1G>C rs1064796656
NM_001282531.3(ADNP):c.1009G>A (p.Val337Ile) rs2122758058
NM_001282531.3(ADNP):c.1033C>T (p.Gln345Ter) rs1981068436
NM_001282531.3(ADNP):c.1046_1047del (p.Leu349fs) rs1981065982
NM_001282531.3(ADNP):c.108+6T>C rs1600956430
NM_001282531.3(ADNP):c.1102C>T (p.Gln368Ter) rs886056775
NM_001282531.3(ADNP):c.1108C>G (p.Leu370Val)
NM_001282531.3(ADNP):c.1180C>G (p.Leu394Val) rs143474358
NM_001282531.3(ADNP):c.1191dup (p.Asn398Ter)
NM_001282531.3(ADNP):c.1211C>A (p.Ser404Ter) rs587777524
NM_001282531.3(ADNP):c.1222_1223del (p.Lys408fs) rs1555810376
NM_001282531.3(ADNP):c.1265dup (p.Gln423fs) rs1600932676
NM_001282531.3(ADNP):c.1310dup (p.Gly438fs) rs2122753883
NM_001282531.3(ADNP):c.1337G>A (p.Trp446Ter) rs1555810308
NM_001282531.3(ADNP):c.1540T>G (p.Cys514Gly) rs2122752568
NM_001282531.3(ADNP):c.1717del (p.Asp573fs) rs1555810193
NM_001282531.3(ADNP):c.177_178dup (p.Asp60fs)
NM_001282531.3(ADNP):c.185C>T (p.Ser62Leu)
NM_001282531.3(ADNP):c.190dup (p.Thr64fs) rs886041741
NM_001282531.3(ADNP):c.1936_1937del (p.Arg646fs)
NM_001282531.3(ADNP):c.2000G>T (p.Cys667Phe)
NM_001282531.3(ADNP):c.201G>C (p.Gln67His) rs1555812161
NM_001282531.3(ADNP):c.2077A>G (p.Thr693Ala)
NM_001282531.3(ADNP):c.2089dup (p.Gln697fs) rs2122747616
NM_001282531.3(ADNP):c.2129dup (p.Ser711fs) rs1980913274
NM_001282531.3(ADNP):c.2138C>T (p.Ala713Val)
NM_001282531.3(ADNP):c.2155del (p.Tyr719fs) rs2122746625
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001282531.3(ADNP):c.2157C>A (p.Tyr719Ter) rs587777526
NM_001282531.3(ADNP):c.2157C>G (p.Tyr719Ter) rs587777526
NM_001282531.3(ADNP):c.2157_2159del (p.Tyr719_Glu720delinsTer) rs1600930118
NM_001282531.3(ADNP):c.2157del (p.Thr718_Tyr719insTer) rs1600930164
NM_001282531.3(ADNP):c.2163_2164dup (p.Met722fs) rs2122746369
NM_001282531.3(ADNP):c.2167del (p.Glu723fs) rs2122746230
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001282531.3(ADNP):c.2193_2197delinsA (p.Leu732fs)
NM_001282531.3(ADNP):c.2194_2197del (p.Leu732fs) rs1555809984
NM_001282531.3(ADNP):c.2197GAT[2] (p.Asp735del)
NM_001282531.3(ADNP):c.2212dup (p.Ser738fs)
NM_001282531.3(ADNP):c.2213C>A (p.Ser738Ter) rs779340209
NM_001282531.3(ADNP):c.2213C>G (p.Ser738Ter) rs779340209
NM_001282531.3(ADNP):c.2213dup (p.Pro739fs)
NM_001282531.3(ADNP):c.2220CTT[1] (p.Phe742del) rs758610238
NM_001282531.3(ADNP):c.2278G>T (p.Glu760Ter) rs1221864735
NM_001282531.3(ADNP):c.2287del (p.Ser763fs) rs1555809919
NM_001282531.3(ADNP):c.2292T>G (p.Tyr764Ter)
NM_001282531.3(ADNP):c.2318dup (p.Tyr774fs) rs1057518978
NM_001282531.3(ADNP):c.2330_2333del (p.Lys777fs)
NM_001282531.3(ADNP):c.2387G>A (p.Trp796Ter) rs2122743549
NM_001282531.3(ADNP):c.2424_2427del (p.Lys809fs) rs2122743279
NM_001282531.3(ADNP):c.2454C>G (p.Tyr818Ter) rs2122743080
NM_001282531.3(ADNP):c.2483dup (p.Met828fs)
NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs) rs587777522
NM_001282531.3(ADNP):c.2495_2499del (p.Asn832fs) rs2122742586
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs) rs587777523
NM_001282531.3(ADNP):c.2572G>A (p.Ala858Thr) rs1448543362
NM_001282531.3(ADNP):c.2573C>G (p.Ala858Gly) rs1980835532
NM_001282531.3(ADNP):c.2749C>G (p.Pro917Ala) rs142988030
NM_001282531.3(ADNP):c.2773G>A (p.Glu925Lys)
NM_001282531.3(ADNP):c.2808del (p.Lys935_Tyr936insTer) rs587777525
NM_001282531.3(ADNP):c.280C>T (p.Arg94Cys) rs1186714720
NM_001282531.3(ADNP):c.2865_2868del (p.Ser955fs) rs1980777288
NM_001282531.3(ADNP):c.2938C>T (p.Gln980Ter) rs1980763449
NM_001282531.3(ADNP):c.2968_2969inv (p.Glu990Ser)
NM_001282531.3(ADNP):c.2971A>G (p.Met991Val) rs564373258
NM_001282531.3(ADNP):c.3045_3047del (p.Lys1016del) rs761350619
NM_001282531.3(ADNP):c.3047dup (p.Ala1017fs)
NM_001282531.3(ADNP):c.3056T>C (p.Met1019Thr) rs1243550758
NM_001282531.3(ADNP):c.3110A>C (p.Glu1037Ala)
NM_001282531.3(ADNP):c.3205A>G (p.Ile1069Val)
NM_001282531.3(ADNP):c.3206T>C (p.Ile1069Thr)
NM_001282531.3(ADNP):c.3213_3216del (p.Ser1071fs) rs1568701332
NM_001282531.3(ADNP):c.321del (p.Asn108fs) rs2122764752
NM_001282531.3(ADNP):c.3248dup (p.Val1084fs) rs1555809374
NM_001282531.3(ADNP):c.3266A>G (p.His1089Arg)
NM_001282531.3(ADNP):c.3278_3279dup (p.Gly1094fs) rs869320662
NM_001282531.3(ADNP):c.3304G>A (p.Ala1102Thr) rs750407672
NM_001282531.3(ADNP):c.422_424dup (p.Ser141dup) rs577498739
NM_001282531.3(ADNP):c.443_446del (p.Lys148fs)
NM_001282531.3(ADNP):c.484C>T (p.Gln162Ter) rs1981147033
NM_001282531.3(ADNP):c.514T>C (p.Tyr172His)
NM_001282531.3(ADNP):c.517C>T (p.Arg173Ter) rs1135401791
NM_001282531.3(ADNP):c.539_542del (p.Val180fs) rs1057518345
NM_001282531.3(ADNP):c.613C>G (p.Leu205Val)
NM_001282531.3(ADNP):c.638C>T (p.Ser213Leu) rs1981126911
NM_001282531.3(ADNP):c.642_651del (p.Asn214fs) rs1981125064
NM_001282531.3(ADNP):c.64dup (p.Ile22fs) rs1982229334
NM_001282531.3(ADNP):c.655_656del (p.Glu218_Ser219insTer) rs2122761731
NM_001282531.3(ADNP):c.709del (p.Val237fs) rs1981116316
NM_001282531.3(ADNP):c.733G>T (p.Glu245Ter)
NM_001282531.3(ADNP):c.736C>T (p.Arg246Cys) rs2122760828
NM_001282531.3(ADNP):c.775A>C (p.Asn259His) rs1568710433
NM_001282531.3(ADNP):c.790del (p.Arg264fs)
NM_001282531.3(ADNP):c.819_820insT (p.Lys274Ter)
NM_001282531.3(ADNP):c.819del (p.Lys274fs) rs886041498
NM_001282531.3(ADNP):c.82_85del (p.Leu28fs) rs1982227129
NM_001282531.3(ADNP):c.833AGA[1] (p.Lys279del) rs771131110
NM_001282531.3(ADNP):c.833dup (p.Lys279fs)
NM_001282531.3(ADNP):c.872C>G (p.Ala291Gly) rs1981093578
NM_001282531.3(ADNP):c.898dup (p.Ser300fs) rs2122759209
NM_001282531.3(ADNP):c.907A>G (p.Met303Val)
NM_001282531.3(ADNP):c.940_941del (p.Leu314fs) rs1981083173
NM_001282531.3(ADNP):c.95_96insT (p.Lys32fs) rs2122840340

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