List of variants in gene ADNP reported as likely pathogenic for developmental defect during embryogenesis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_001282531.3(ADNP):c.662T>G (p.Ile221Ser)	rs747105829	0.00002
NM_001282531.3(ADNP):c.1046_1047del (p.Leu349fs)	rs1981065982
NM_001282531.3(ADNP):c.1102C>T (p.Gln368Ter)	rs886056775
NM_001282531.3(ADNP):c.1222_1223del (p.Lys408fs)	rs1555810376
NM_001282531.3(ADNP):c.1265dup (p.Gln423fs)	rs1600932676
NM_001282531.3(ADNP):c.1310dup (p.Gly438fs)	rs2122753883
NM_001282531.3(ADNP):c.1540T>G (p.Cys514Gly)	rs2122752568
NM_001282531.3(ADNP):c.1717del (p.Asp573fs)	rs1555810193
NM_001282531.3(ADNP):c.2000G>T (p.Cys667Phe)
NM_001282531.3(ADNP):c.201G>C (p.Gln67His)	rs1555812161
NM_001282531.3(ADNP):c.2089dup (p.Gln697fs)	rs2122747616
NM_001282531.3(ADNP):c.2129dup (p.Ser711fs)	rs1980913274
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter)	rs1135401808
NM_001282531.3(ADNP):c.2157del (p.Thr718_Tyr719insTer)	rs1600930164
NM_001282531.3(ADNP):c.2163_2164dup (p.Met722fs)	rs2122746369
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)	rs886041116
NM_001282531.3(ADNP):c.2193_2197delinsA (p.Leu732fs)
NM_001282531.3(ADNP):c.2213dup (p.Pro739fs)
NM_001282531.3(ADNP):c.2278G>T (p.Glu760Ter)	rs1221864735
NM_001282531.3(ADNP):c.2287del (p.Ser763fs)	rs1555809919
NM_001282531.3(ADNP):c.2330_2333del (p.Lys777fs)
NM_001282531.3(ADNP):c.2468T>G (p.Leu823Trp)
NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs)	rs587777522
NM_001282531.3(ADNP):c.2938C>T (p.Gln980Ter)	rs1980763449
NM_001282531.3(ADNP):c.3047dup (p.Ala1017fs)
NM_001282531.3(ADNP):c.321del (p.Asn108fs)	rs2122764752
NM_001282531.3(ADNP):c.443_446del (p.Lys148fs)
NM_001282531.3(ADNP):c.64dup (p.Ile22fs)	rs1982229334
NM_001282531.3(ADNP):c.709del (p.Val237fs)	rs1981116316
NM_001282531.3(ADNP):c.833dup (p.Lys279fs)

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