ClinVar Miner

List of variants in gene ADNP reported as not provided for ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001282531.3(ADNP):c.2157C>G (p.Tyr719Ter) rs587777526
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
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.3278_3279dup (p.Gly1094fs) rs869320662
NM_001282531.3(ADNP):c.819_820insT (p.Lys274Ter)
NM_001282531.3(ADNP):c.82_85del (p.Leu28fs) rs1982227129

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