ClinVar Miner

List of variants in gene EIF4G1 studied for basal ganglia disorder

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_198241.3(EIF4G1):c.1294A>G (p.Met432Val) rs2178403 0.80731
NM_198241.3(EIF4G1):c.3953+9A>G rs939317 0.80145
NM_198241.3(EIF4G1):c.3325+16C>T rs2293605 0.08976
NM_198241.3(EIF4G1):c.4251C>T (p.Val1417=) rs76779558 0.01418
NM_198241.3(EIF4G1):c.4510C>T (p.Leu1504=) rs74627110 0.00490
NM_198241.3(EIF4G1):c.2979C>T (p.Arg993=) rs11918961 0.00057
NM_198241.3(EIF4G1):c.3614G>A (p.Arg1205His) rs112176450 0.00016
NM_198241.3(EIF4G1):c.1505C>T (p.Ala502Val) rs111290936 0.00013
NM_198241.3(EIF4G1):c.3824T>A (p.Leu1275His) rs550525876 0.00006
NM_198241.3(EIF4G1):c.1570A>G (p.Lys524Glu)
NM_198241.3(EIF4G1):c.3188C>T (p.Pro1063Leu)
NM_198241.3(EIF4G1):c.536C>T (p.Thr179Met) rs981309467
NM_198241.3(EIF4G1):c.956C>G (p.Pro319Arg)

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