List of variants reported as pathogenic for ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder by GenomeConnect - Simons Searchlight

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001282531.3(ADNP):c.1033C>T (p.Gln345Ter)	rs1981068436
NM_001282531.3(ADNP):c.190dup (p.Thr64fs)	rs886041741
NM_001282531.3(ADNP):c.2157C>A (p.Tyr719Ter)	rs587777526
NM_001282531.3(ADNP):c.2213C>A (p.Ser738Ter)	rs779340209
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs)	rs587777523
NM_001282531.3(ADNP):c.2865_2868del (p.Ser955fs)	rs1980777288
NM_001282531.3(ADNP):c.484C>T (p.Gln162Ter)	rs1981147033
NM_001282531.3(ADNP):c.819del (p.Lys274fs)	rs886041498
NM_001282531.3(ADNP):c.940_941del (p.Leu314fs)	rs1981083173

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