ClinVar Miner

List of variants in gene ADNP reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 133
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HGVS dbSNP gnomAD frequency
NM_001282531.3(ADNP):c.2568C>T (p.Val856=) rs1062651 0.10055
NM_001282531.3(ADNP):c.2067C>T (p.Gly689=) rs17790938 0.09265
NM_001282531.3(ADNP):c.2076G>A (p.Lys692=) rs6096168 0.03400
NM_001282531.3(ADNP):c.1075A>G (p.Ile359Val) rs78300927 0.00553
NM_001282531.3(ADNP):c.2475G>T (p.Gly825=) rs148502910 0.00534
NM_001282531.3(ADNP):c.2666G>C (p.Ser889Thr) rs34342624 0.00359
NM_001282531.3(ADNP):c.2743G>A (p.Val915Ile) rs150900514 0.00236
NM_001282531.3(ADNP):c.2931A>G (p.Gly977=) rs144684998 0.00132
NM_001282531.3(ADNP):c.2943G>T (p.Val981=) rs143103063 0.00107
NM_001282531.3(ADNP):c.3279C>T (p.Ala1093=) rs142247083 0.00097
NM_001282531.3(ADNP):c.1752A>G (p.Gln584=) rs139237825 0.00050
NM_001282531.3(ADNP):c.909G>A (p.Met303Ile) rs141172488 0.00050
NM_001282531.3(ADNP):c.3058C>G (p.Gln1020Glu) rs150374762 0.00046
NM_001282531.3(ADNP):c.535A>G (p.Ile179Val) rs144798768 0.00031
NM_001282531.3(ADNP):c.3236A>G (p.Asn1079Ser) rs147399432 0.00025
NM_001282531.3(ADNP):c.2554A>G (p.Lys852Glu) rs776007948 0.00024
NM_001282531.3(ADNP):c.1063G>A (p.Ala355Thr) rs200625964 0.00021
NM_001282531.3(ADNP):c.2310T>C (p.Phe770=) rs189595164 0.00021
NM_001282531.3(ADNP):c.2561C>T (p.Ser854Phe) rs376827094 0.00021
NM_001282531.3(ADNP):c.2749C>T (p.Pro917Ser) rs142988030 0.00019
NM_001282531.3(ADNP):c.1212G>C (p.Ser404=) rs139951165 0.00016
NM_001282531.3(ADNP):c.2782G>C (p.Asp928His) rs76458950 0.00014
NM_001282531.3(ADNP):c.627C>A (p.Val209=) rs139387382 0.00014
NM_001282531.3(ADNP):c.1163C>T (p.Ala388Val) rs200732604 0.00013
NM_001282531.3(ADNP):c.1932A>G (p.Arg644=) rs199630325 0.00013
NM_001282531.3(ADNP):c.3185T>C (p.Ile1062Thr) rs745861253 0.00011
NM_001282531.3(ADNP):c.356A>G (p.Lys119Arg) rs182284347 0.00010
NM_001282531.3(ADNP):c.666C>T (p.His222=) rs539414821 0.00010
NM_001282531.3(ADNP):c.2463C>T (p.Gly821=) rs753658750 0.00008
NM_001282531.3(ADNP):c.2815A>C (p.Ile939Leu) rs201104498 0.00008
NM_001282531.3(ADNP):c.2994C>T (p.Asp998=) rs753268138 0.00008
NM_001282531.3(ADNP):c.1014C>G (p.Gly338=) rs765870706 0.00004
NM_001282531.3(ADNP):c.1754A>G (p.Asn585Ser) rs147336313 0.00004
NM_001282531.3(ADNP):c.3147T>C (p.Asn1049=) rs370968237 0.00004
NM_001282531.3(ADNP):c.393G>A (p.Pro131=) rs201360495 0.00004
NM_001282531.3(ADNP):c.2189G>A (p.Arg730Gln) rs377051194 0.00003
NM_001282531.3(ADNP):c.2600A>G (p.Asn867Ser) rs750479975 0.00002
NM_001282531.3(ADNP):c.344A>G (p.Asn115Ser) rs140023121 0.00002
NM_001282531.3(ADNP):c.483G>A (p.Glu161=) rs148101672 0.00002
NM_001282531.3(ADNP):c.839G>A (p.Ser280Asn) rs369919577 0.00002
NM_001282531.3(ADNP):c.1133A>G (p.Tyr378Cys) rs773142534 0.00001
NM_001282531.3(ADNP):c.1275T>C (p.Ser425=) rs199549262 0.00001
NM_001282531.3(ADNP):c.1392C>T (p.His464=) rs139316207 0.00001
NM_001282531.3(ADNP):c.1597A>G (p.Met533Val) rs761339004 0.00001
NM_001282531.3(ADNP):c.191C>T (p.Thr64Met) rs752399004 0.00001
NM_001282531.3(ADNP):c.2632A>G (p.Ser878Gly) rs1568703975 0.00001
NM_001282531.3(ADNP):c.285T>C (p.Asn95=) rs781020957 0.00001
NM_001282531.3(ADNP):c.2923G>T (p.Gly975Trp) rs1980766074 0.00001
NM_001282531.3(ADNP):c.3092G>A (p.Ser1031Asn) rs1392946940 0.00001
NM_001282531.3(ADNP):c.3095C>G (p.Ser1032Cys) rs559915015 0.00001
NM_001282531.3(ADNP):c.402C>T (p.Ser134=) rs778855131 0.00001
NM_001282531.3(ADNP):c.1018G>A (p.Gly340Ser)
NM_001282531.3(ADNP):c.1039A>G (p.Met347Val)
NM_001282531.3(ADNP):c.103A>G (p.Ile35Val)
NM_001282531.3(ADNP):c.1074C>T (p.Ser358=)
NM_001282531.3(ADNP):c.109-5T>C
NM_001282531.3(ADNP):c.1108C>A (p.Leu370Ile)
NM_001282531.3(ADNP):c.1108C>G (p.Leu370Val)
NM_001282531.3(ADNP):c.1142G>T (p.Gly381Val) rs1014650398
NM_001282531.3(ADNP):c.1159C>A (p.Gln387Lys)
NM_001282531.3(ADNP):c.1179C>A (p.Ser393=)
NM_001282531.3(ADNP):c.1286C>T (p.Ala429Val)
NM_001282531.3(ADNP):c.1337G>A (p.Trp446Ter) rs1555810308
NM_001282531.3(ADNP):c.1377T>C (p.Asn459=)
NM_001282531.3(ADNP):c.147A>T (p.Lys49Asn)
NM_001282531.3(ADNP):c.1553G>A (p.Arg518His)
NM_001282531.3(ADNP):c.1620_1630dup (p.Thr544fs) rs1980973531
NM_001282531.3(ADNP):c.1759C>T (p.Pro587Ser)
NM_001282531.3(ADNP):c.1762C>T (p.Pro588Ser)
NM_001282531.3(ADNP):c.1764A>G (p.Pro588=)
NM_001282531.3(ADNP):c.1771C>T (p.Pro591Ser)
NM_001282531.3(ADNP):c.1773A>C (p.Pro591=) rs1568707489
NM_001282531.3(ADNP):c.1819A>C (p.Ser607Arg)
NM_001282531.3(ADNP):c.201G>C (p.Gln67His) rs1555812161
NM_001282531.3(ADNP):c.2149C>T (p.Arg717Cys)
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.2220CTT[1] (p.Phe742del) rs758610238
NM_001282531.3(ADNP):c.2287del (p.Ser763fs) rs1555809919
NM_001282531.3(ADNP):c.2287dup (p.Ser763fs) rs1555809919
NM_001282531.3(ADNP):c.2337C>T (p.Pro779=)
NM_001282531.3(ADNP):c.2400C>T (p.Ile800=)
NM_001282531.3(ADNP):c.244T>G (p.Ser82Ala)
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.2601C>T (p.Asn867=)
NM_001282531.3(ADNP):c.2667T>A (p.Ser889Arg)
NM_001282531.3(ADNP):c.2683C>T (p.Pro895Ser)
NM_001282531.3(ADNP):c.2713_2715del (p.Asn905del)
NM_001282531.3(ADNP):c.2716G>A (p.Asp906Asn)
NM_001282531.3(ADNP):c.2763A>C (p.Ser921=)
NM_001282531.3(ADNP):c.2788A>G (p.Lys930Glu)
NM_001282531.3(ADNP):c.2809G>A (p.Glu937Lys)
NM_001282531.3(ADNP):c.2836A>G (p.Thr946Ala)
NM_001282531.3(ADNP):c.2865_2868del (p.Ser955fs) rs1980777288
NM_001282531.3(ADNP):c.2877A>G (p.Gln959=)
NM_001282531.3(ADNP):c.2901C>T (p.Asp967=)
NM_001282531.3(ADNP):c.2911C>T (p.Pro971Ser)
NM_001282531.3(ADNP):c.2922T>A (p.Ser974Arg)
NM_001282531.3(ADNP):c.2971A>G (p.Met991Val) rs564373258
NM_001282531.3(ADNP):c.3009C>T (p.Ser1003=)
NM_001282531.3(ADNP):c.3068G>A (p.Arg1023Lys)
NM_001282531.3(ADNP):c.3079A>G (p.Lys1027Glu)
NM_001282531.3(ADNP):c.30C>A (p.Gly10=)
NM_001282531.3(ADNP):c.313A>C (p.Ile105Leu)
NM_001282531.3(ADNP):c.3172T>C (p.Ser1058Pro)
NM_001282531.3(ADNP):c.3178C>G (p.Pro1060Ala)
NM_001282531.3(ADNP):c.3258G>T (p.Glu1086Asp)
NM_001282531.3(ADNP):c.3281G>T (p.Gly1094Val)
NM_001282531.3(ADNP):c.331del (p.Tyr111fs) rs1981170986
NM_001282531.3(ADNP):c.392C>T (p.Pro131Leu)
NM_001282531.3(ADNP):c.422_424dup (p.Ser141dup) rs577498739
NM_001282531.3(ADNP):c.478G>A (p.Val160Ile)
NM_001282531.3(ADNP):c.539_542del (p.Val180fs) rs1057518345
NM_001282531.3(ADNP):c.607A>G (p.Lys203Glu)
NM_001282531.3(ADNP):c.621G>T (p.Gly207=)
NM_001282531.3(ADNP):c.656G>C (p.Ser219Thr)
NM_001282531.3(ADNP):c.671A>G (p.Lys224Arg)
NM_001282531.3(ADNP):c.704C>G (p.Ala235Gly)
NM_001282531.3(ADNP):c.724G>A (p.Glu242Lys) rs1568710507
NM_001282531.3(ADNP):c.775A>C (p.Asn259His) rs1568710433
NM_001282531.3(ADNP):c.800C>A (p.Pro267His)
NM_001282531.3(ADNP):c.833AGA[1] (p.Lys279del) rs771131110
NM_001282531.3(ADNP):c.854C>A (p.Pro285Gln)
NM_001282531.3(ADNP):c.887G>A (p.Arg296Gln)
NM_001282531.3(ADNP):c.906G>C (p.Gln302His)
NM_001282531.3(ADNP):c.917G>A (p.Arg306Gln)
NM_001282531.3(ADNP):c.918A>T (p.Arg306=)
NM_001282531.3(ADNP):c.925A>G (p.Ile309Val)
NM_001282531.3(ADNP):c.991A>T (p.Asn331Tyr)

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