ClinVar Miner

List of variants in gene EIF2AK3 reported as uncertain significance for bone development disease

Included ClinVar conditions (588):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 142
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HGVS dbSNP gnomAD frequency
NM_004836.6(EIF2AK3):c.-201A>G rs144057685 0.00671
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val) rs55791823 0.00277
NM_004836.7(EIF2AK3):c.1264G>A (p.Ala422Thr) rs145427892 0.00096
NM_004836.7(EIF2AK3):c.1751G>A (p.Gly584Glu) rs150314450 0.00079
NM_004836.7(EIF2AK3):c.719G>A (p.Arg240His) rs147458427 0.00062
NM_004836.7(EIF2AK3):c.2147C>T (p.Pro716Leu) rs55861585 0.00036
NM_004836.7(EIF2AK3):c.1504G>A (p.Asp502Asn) rs141901506 0.00032
NM_004836.7(EIF2AK3):c.103G>C (p.Gly35Arg) rs776456569 0.00019
NM_004836.7(EIF2AK3):c.1173T>C (p.Tyr391=) rs146949180 0.00016
NM_004836.7(EIF2AK3):c.149C>T (p.Ala50Val) rs766276341 0.00014
NM_004836.7(EIF2AK3):c.530C>T (p.Thr177Ile) rs187776572 0.00012
NM_004836.7(EIF2AK3):c.928A>T (p.Ile310Leu) rs191277311 0.00010
NM_004836.7(EIF2AK3):c.1719T>C (p.Asn573=) rs137927384 0.00009
NM_004836.7(EIF2AK3):c.328A>G (p.Thr110Ala) rs139901728 0.00009
NM_004836.7(EIF2AK3):c.13A>G (p.Ile5Val) rs886056419 0.00008
NM_004836.7(EIF2AK3):c.-17C>G rs755314163 0.00006
NM_004836.7(EIF2AK3):c.68T>G (p.Leu23Arg) rs886056418 0.00006
NM_004836.6(EIF2AK3):c.-263T>C rs762232975 0.00005
NM_004836.7(EIF2AK3):c.857A>G (p.Asn286Ser) rs150474217 0.00005
NM_004836.7(EIF2AK3):c.2477G>A (p.Arg826Gln) rs1171816937 0.00004
NM_004836.7(EIF2AK3):c.2909C>T (p.Thr970Met) rs751166753 0.00004
NM_004836.7(EIF2AK3):c.35G>C (p.Arg12Pro) rs756618692 0.00004
NM_004836.7(EIF2AK3):c.959T>C (p.Met320Thr) rs1276515547 0.00004
NM_004836.7(EIF2AK3):c.1121T>C (p.Ile374Thr) rs760865789 0.00003
NM_004836.7(EIF2AK3):c.1165+10T>C rs745614562 0.00003
NM_004836.7(EIF2AK3):c.1947G>A (p.Pro649=) rs765544171 0.00003
NM_004836.7(EIF2AK3):c.1228A>G (p.Ser410Gly) rs777668213 0.00002
NM_004836.7(EIF2AK3):c.1332G>A (p.Leu444=) rs779731596 0.00002
NM_004836.7(EIF2AK3):c.1370A>G (p.Asp457Gly) rs750810139 0.00002
NM_004836.7(EIF2AK3):c.1483C>A (p.Gln495Lys) rs765173142 0.00002
NM_004836.7(EIF2AK3):c.2255G>A (p.Ser752Asn) rs376905155 0.00002
NM_004836.7(EIF2AK3):c.2500G>A (p.Ala834Thr) rs751296708 0.00002
NM_004836.7(EIF2AK3):c.2507A>T (p.Lys836Ile) rs200270016 0.00002
NM_004836.7(EIF2AK3):c.70G>C (p.Ala24Pro) rs1220868165 0.00002
NM_004836.7(EIF2AK3):c.845C>T (p.Thr282Ile) rs765112357 0.00002
NM_004836.7(EIF2AK3):c.913A>G (p.Ile305Val) rs769083965 0.00002
NM_004836.7(EIF2AK3):c.1085C>T (p.Thr362Ile) rs1674857627 0.00001
NM_004836.7(EIF2AK3):c.1310C>A (p.Ser437Tyr) rs200574679 0.00001
NM_004836.7(EIF2AK3):c.1481C>T (p.Thr494Ile) rs965316271 0.00001
NM_004836.7(EIF2AK3):c.1576G>A (p.Val526Ile) rs1674713665 0.00001
NM_004836.7(EIF2AK3):c.1601T>C (p.Ile534Thr) rs747376208 0.00001
NM_004836.7(EIF2AK3):c.1622G>A (p.Arg541His) rs758957898 0.00001
NM_004836.7(EIF2AK3):c.170C>T (p.Thr57Met) rs773937986 0.00001
NM_004836.7(EIF2AK3):c.1873C>T (p.Arg625Cys) rs770192517 0.00001
NM_004836.7(EIF2AK3):c.1883A>G (p.Asn628Ser) rs776579341 0.00001
NM_004836.7(EIF2AK3):c.2073T>C (p.Asp691=) rs747687191 0.00001
NM_004836.7(EIF2AK3):c.2093G>A (p.Arg698His) rs780592115 0.00001
NM_004836.7(EIF2AK3):c.2104C>G (p.Pro702Ala) rs781754103 0.00001
NM_004836.7(EIF2AK3):c.2935G>A (p.Ala979Thr) rs766524866 0.00001
NM_004836.7(EIF2AK3):c.63G>A (p.Leu21=) rs984341375 0.00001
NM_004836.7(EIF2AK3):c.737G>A (p.Arg246Lys) rs775353963 0.00001
NM_004836.7(EIF2AK3):c.786C>A (p.Gly262=) rs375371096 0.00001
NM_004836.6(EIF2AK3):c.-195G>T rs886056421
NM_004836.7(EIF2AK3):c.-10C>T rs1291618208
NM_004836.7(EIF2AK3):c.-162G>A rs886056420
NM_004836.7(EIF2AK3):c.101G>A (p.Arg34His) rs1675887917
NM_004836.7(EIF2AK3):c.101G>C (p.Arg34Pro)
NM_004836.7(EIF2AK3):c.1037A>C (p.Lys346Thr)
NM_004836.7(EIF2AK3):c.104G>A (p.Gly35Asp)
NM_004836.7(EIF2AK3):c.1067T>C (p.Phe356Ser)
NM_004836.7(EIF2AK3):c.1087T>C (p.Ser363Pro)
NM_004836.7(EIF2AK3):c.1091ATG[2] (p.Asp366del) rs747505731
NM_004836.7(EIF2AK3):c.1092T>A (p.Asn364Lys) rs886056417
NM_004836.7(EIF2AK3):c.1096G>C (p.Asp366His)
NM_004836.7(EIF2AK3):c.1132G>T (p.Ala378Ser)
NM_004836.7(EIF2AK3):c.1145C>A (p.Thr382Lys)
NM_004836.7(EIF2AK3):c.115C>T (p.Pro39Ser)
NM_004836.7(EIF2AK3):c.1195T>C (p.Ser399Pro)
NM_004836.7(EIF2AK3):c.1265C>T (p.Ala422Val) rs947983532
NM_004836.7(EIF2AK3):c.1342G>A (p.Asp448Asn)
NM_004836.7(EIF2AK3):c.1400G>A (p.Gly467Asp)
NM_004836.7(EIF2AK3):c.1400G>C (p.Gly467Ala)
NM_004836.7(EIF2AK3):c.1432A>C (p.Asn478His)
NM_004836.7(EIF2AK3):c.1451A>G (p.Tyr484Cys)
NM_004836.7(EIF2AK3):c.146C>A (p.Ala49Glu)
NM_004836.7(EIF2AK3):c.1492G>A (p.Val498Ile)
NM_004836.7(EIF2AK3):c.1518CAA[1] (p.Asn507del)
NM_004836.7(EIF2AK3):c.1541A>T (p.Asp514Val)
NM_004836.7(EIF2AK3):c.1583C>T (p.Thr528Met)
NM_004836.7(EIF2AK3):c.1726A>C (p.Ser576Arg) rs1674645367
NM_004836.7(EIF2AK3):c.1762C>A (p.Arg588=)
NM_004836.7(EIF2AK3):c.1873C>G (p.Arg625Gly) rs770192517
NM_004836.7(EIF2AK3):c.1886+8G>T
NM_004836.7(EIF2AK3):c.1891T>G (p.Leu631Val) rs540704378
NM_004836.7(EIF2AK3):c.1913G>A (p.Arg638Gln)
NM_004836.7(EIF2AK3):c.191C>T (p.Ala64Val)
NM_004836.7(EIF2AK3):c.1975C>A (p.Leu659Ile)
NM_004836.7(EIF2AK3):c.2057C>T (p.Ser686Phe)
NM_004836.7(EIF2AK3):c.2092C>T (p.Arg698Cys) rs189064501
NM_004836.7(EIF2AK3):c.2111C>T (p.Ala704Val)
NM_004836.7(EIF2AK3):c.2123A>G (p.His708Arg)
NM_004836.7(EIF2AK3):c.212C>T (p.Thr71Ile) rs1675883639
NM_004836.7(EIF2AK3):c.2155A>C (p.Ser719Arg)
NM_004836.7(EIF2AK3):c.2156G>A (p.Ser719Asn)
NM_004836.7(EIF2AK3):c.2292T>A (p.Ser764Arg)
NM_004836.7(EIF2AK3):c.2308G>C (p.Asp770His)
NM_004836.7(EIF2AK3):c.2333G>C (p.Gly778Ala)
NM_004836.7(EIF2AK3):c.2345G>A (p.Gly782Glu)
NM_004836.7(EIF2AK3):c.2400G>C (p.Glu800Asp)
NM_004836.7(EIF2AK3):c.2476C>G (p.Arg826Gly)
NM_004836.7(EIF2AK3):c.2483A>T (p.His828Leu) rs369837691
NM_004836.7(EIF2AK3):c.2555C>T (p.Thr852Ile)
NM_004836.7(EIF2AK3):c.2569C>T (p.Pro857Ser)
NM_004836.7(EIF2AK3):c.2585C>T (p.Thr862Ile)
NM_004836.7(EIF2AK3):c.2591G>C (p.Ser864Thr)
NM_004836.7(EIF2AK3):c.2638C>A (p.Pro880Thr)
NM_004836.7(EIF2AK3):c.2708G>A (p.Arg903Gln)
NM_004836.7(EIF2AK3):c.2735G>A (p.Ser912Asn)
NM_004836.7(EIF2AK3):c.2736C>A (p.Ser912Arg)
NM_004836.7(EIF2AK3):c.2739G>A (p.Val913=)
NM_004836.7(EIF2AK3):c.2746C>T (p.His916Tyr)
NM_004836.7(EIF2AK3):c.2914C>G (p.Leu972Val)
NM_004836.7(EIF2AK3):c.3029T>C (p.Leu1010Ser)
NM_004836.7(EIF2AK3):c.3071A>C (p.Gln1024Pro)
NM_004836.7(EIF2AK3):c.3074T>C (p.Met1025Thr)
NM_004836.7(EIF2AK3):c.3080G>C (p.Arg1027Thr)
NM_004836.7(EIF2AK3):c.3088-2dup
NM_004836.7(EIF2AK3):c.3113A>G (p.Lys1038Arg)
NM_004836.7(EIF2AK3):c.3151-16A>G
NM_004836.7(EIF2AK3):c.3205A>G (p.Ile1069Val)
NM_004836.7(EIF2AK3):c.3216T>A (p.Ile1072=)
NM_004836.7(EIF2AK3):c.3234G>A (p.Glu1078=)
NM_004836.7(EIF2AK3):c.3257_3258del (p.Thr1086fs)
NM_004836.7(EIF2AK3):c.3326C>G (p.Ser1109Cys)
NM_004836.7(EIF2AK3):c.3330T>A (p.His1110Gln) rs145982613
NM_004836.7(EIF2AK3):c.398G>C (p.Gly133Ala)
NM_004836.7(EIF2AK3):c.40CTG[10] (p.Leu20_Leu21dup) rs1805190
NM_004836.7(EIF2AK3):c.503G>A (p.Arg168His) rs1003629254
NM_004836.7(EIF2AK3):c.511A>G (p.Met171Val) rs1425626815
NM_004836.7(EIF2AK3):c.53T>G (p.Leu18Arg) rs1045275032
NM_004836.7(EIF2AK3):c.575T>A (p.Val192Asp) rs1309491307
NM_004836.7(EIF2AK3):c.650C>T (p.Ser217Leu)
NM_004836.7(EIF2AK3):c.652G>T (p.Ala218Ser)
NM_004836.7(EIF2AK3):c.656T>C (p.Leu219Pro)
NM_004836.7(EIF2AK3):c.677G>C (p.Ser226Thr)
NM_004836.7(EIF2AK3):c.724C>G (p.Gln242Glu)
NM_004836.7(EIF2AK3):c.752G>A (p.Arg251His)
NM_004836.7(EIF2AK3):c.800G>A (p.Arg267Gln)
NM_004836.7(EIF2AK3):c.807T>G (p.Ile269Met)
NM_004836.7(EIF2AK3):c.86C>T (p.Ala29Val) rs529920914
NM_004836.7(EIF2AK3):c.946G>C (p.Asp316His)
NM_004836.7(EIF2AK3):c.98C>T (p.Ala33Val)

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