ClinVar Miner

List of variants in gene ADNP reported as pathogenic for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001282531.3(ADNP):c.-5-1G>C rs1064796656
NM_001282531.3(ADNP):c.1033C>T (p.Gln345Ter) rs1981068436
NM_001282531.3(ADNP):c.1184dup (p.Ser396fs) rs1981038382
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.1239_1240del (p.Gln414fs) rs1981021559
NM_001282531.3(ADNP):c.1337G>A (p.Trp446Ter) rs1555810308
NM_001282531.3(ADNP):c.177_178dup (p.Asp60fs)
NM_001282531.3(ADNP):c.190dup (p.Thr64fs) rs886041741
NM_001282531.3(ADNP):c.1936_1937del (p.Arg646fs)
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.2167del (p.Glu723fs) rs2122746230
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001282531.3(ADNP):c.2194_2197del (p.Leu732fs) rs1555809984
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.2292T>G (p.Tyr764Ter)
NM_001282531.3(ADNP):c.2318dup (p.Tyr774fs) rs1057518978
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.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.484C>T (p.Gln162Ter) rs1981147033
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.642_651del (p.Asn214fs) rs1981125064
NM_001282531.3(ADNP):c.655_656del (p.Glu218_Ser219insTer) rs2122761731
NM_001282531.3(ADNP):c.67_70del (p.Leu23fs) rs1982228705
NM_001282531.3(ADNP):c.733G>T (p.Glu245Ter)
NM_001282531.3(ADNP):c.819del (p.Lys274fs) rs886041498
NM_001282531.3(ADNP):c.898dup (p.Ser300fs) rs2122759209
NM_001282531.3(ADNP):c.940_941del (p.Leu314fs) rs1981083173
NM_001282531.3(ADNP):c.95_96insT (p.Lys32fs) rs2122840340

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