ClinVar Miner

List of variants in gene ADNP reported as uncertain significance for Inborn genetic diseases

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001282531.3(ADNP):c.3236A>G (p.Asn1079Ser) rs147399432 0.00025
NM_001282531.3(ADNP):c.2554A>G (p.Lys852Glu) rs776007948 0.00024
NM_001282531.3(ADNP):c.2561C>T (p.Ser854Phe) rs376827094 0.00021
NM_001282531.3(ADNP):c.1133A>G (p.Tyr378Cys) rs773142534 0.00001
NM_001282531.3(ADNP):c.2632A>G (p.Ser878Gly) rs1568703975 0.00001
NM_001282531.3(ADNP):c.2923G>T (p.Gly975Trp) rs1980766074 0.00001
NM_001282531.3(ADNP):c.3092G>A (p.Ser1031Asn) rs1392946940 0.00001
NM_001282531.3(ADNP):c.1108C>A (p.Leu370Ile)
NM_001282531.3(ADNP):c.1108C>G (p.Leu370Val)
NM_001282531.3(ADNP):c.1142G>T (p.Gly381Val) rs1014650398
NM_001282531.3(ADNP):c.1159C>A (p.Gln387Lys)
NM_001282531.3(ADNP):c.1286C>T (p.Ala429Val)
NM_001282531.3(ADNP):c.147A>T (p.Lys49Asn)
NM_001282531.3(ADNP):c.1762C>T (p.Pro588Ser)
NM_001282531.3(ADNP):c.1819A>C (p.Ser607Arg)
NM_001282531.3(ADNP):c.244T>G (p.Ser82Ala)
NM_001282531.3(ADNP):c.2667T>A (p.Ser889Arg)
NM_001282531.3(ADNP):c.2683C>T (p.Pro895Ser)
NM_001282531.3(ADNP):c.2713_2715del (p.Asn905del)
NM_001282531.3(ADNP):c.2911C>T (p.Pro971Ser)
NM_001282531.3(ADNP):c.3068G>A (p.Arg1023Lys)
NM_001282531.3(ADNP):c.3079A>G (p.Lys1027Glu)
NM_001282531.3(ADNP):c.3178C>G (p.Pro1060Ala)
NM_001282531.3(ADNP):c.3281G>T (p.Gly1094Val)
NM_001282531.3(ADNP):c.478G>A (p.Val160Ile)
NM_001282531.3(ADNP):c.607A>G (p.Lys203Glu)
NM_001282531.3(ADNP):c.656G>C (p.Ser219Thr)
NM_001282531.3(ADNP):c.671A>G (p.Lys224Arg)
NM_001282531.3(ADNP):c.704C>G (p.Ala235Gly)
NM_001282531.3(ADNP):c.724G>A (p.Glu242Lys) rs1568710507
NM_001282531.3(ADNP):c.775A>C (p.Asn259His) rs1568710433
NM_001282531.3(ADNP):c.800C>A (p.Pro267His)
NM_001282531.3(ADNP):c.854C>A (p.Pro285Gln)
NM_001282531.3(ADNP):c.887G>A (p.Arg296Gln)
NM_001282531.3(ADNP):c.906G>C (p.Gln302His)
NM_001282531.3(ADNP):c.991A>T (p.Asn331Tyr)

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