ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
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.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.2491_2494del (p.Leu831fs) rs587777522
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs) rs587777523
NM_001282531.3(ADNP):c.2808del (p.Lys935_Tyr936insTer) rs587777525

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