ClinVar Miner

List of variants studied for ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001282531.3(ADNP):c.1310dup (p.Gly438fs) rs2122753883
NM_001282531.3(ADNP):c.2089dup (p.Gln697fs) rs2122747616
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
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.2938C>T (p.Gln980Ter) rs1980763449
NM_001282531.3(ADNP):c.64dup (p.Ile22fs) rs1982229334
NM_001282531.3(ADNP):c.709del (p.Val237fs) rs1981116316

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