ClinVar Miner

List of variants in gene ADNP reported as pathogenic by Ambry Genetics

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001282531.3(ADNP):c.1337G>A (p.Trp446Ter) rs1555810308
NM_001282531.3(ADNP):c.1620_1630dup (p.Thr544fs) rs1980973531
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
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.2213C>G (p.Ser738Ter) rs779340209
NM_001282531.3(ADNP):c.2287del (p.Ser763fs) rs1555809919
NM_001282531.3(ADNP):c.2287dup (p.Ser763fs) rs1555809919
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs) rs587777523
NM_001282531.3(ADNP):c.2498_2499del (p.Lys833fs) rs1555809836
NM_001282531.3(ADNP):c.2499del (p.Val834fs) rs1555809836
NM_001282531.3(ADNP):c.331del (p.Tyr111fs) rs1981170986
NM_001282531.3(ADNP):c.539_542del (p.Val180fs) rs1057518345

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