ClinVar Miner

List of variants reported as uncertain significance for ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001282531.3(ADNP):c.2561C>T (p.Ser854Phe) rs376827094 0.00021
NM_001282531.3(ADNP):c.2617G>T (p.Asp873Tyr) rs147299402 0.00008
NM_001282531.3(ADNP):c.2150G>A (p.Arg717His) rs756595568 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.3095C>G (p.Ser1032Cys) rs559915015 0.00001
NM_001282531.3(ADNP):c.481G>A (p.Glu161Lys) rs1981147662 0.00001
NM_001282531.3(ADNP):c.1009G>A (p.Val337Ile) rs2122758058
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.185C>T (p.Ser62Leu)
NM_001282531.3(ADNP):c.2077A>G (p.Thr693Ala)
NM_001282531.3(ADNP):c.2138C>T (p.Ala713Val)
NM_001282531.3(ADNP):c.2197GAT[2] (p.Asp735del)
NM_001282531.3(ADNP):c.2220CTT[1] (p.Phe742del) rs758610238
NM_001282531.3(ADNP):c.2572G>A (p.Ala858Thr) rs1448543362
NM_001282531.3(ADNP):c.2749C>G (p.Pro917Ala) rs142988030
NM_001282531.3(ADNP):c.2773G>A (p.Glu925Lys)
NM_001282531.3(ADNP):c.2968_2969inv (p.Glu990Ser)
NM_001282531.3(ADNP):c.3045_3047del (p.Lys1016del) rs761350619
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.3248dup (p.Val1084fs) rs1555809374
NM_001282531.3(ADNP):c.3266A>G (p.His1089Arg)
NM_001282531.3(ADNP):c.3304G>A (p.Ala1102Thr) rs750407672
NM_001282531.3(ADNP):c.514T>C (p.Tyr172His)
NM_001282531.3(ADNP):c.613C>G (p.Leu205Val)
NM_001282531.3(ADNP):c.638C>T (p.Ser213Leu) rs1981126911
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.872C>G (p.Ala291Gly) rs1981093578
NM_001282531.3(ADNP):c.907A>G (p.Met303Val)

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