ClinVar Miner

List of variants in gene ELP2 studied for Inborn genetic diseases

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_018255.4(ELP2):c.1384C>T (p.Arg462Trp) rs767713084 0.00002
NM_018255.4(ELP2):c.617A>G (p.His206Arg) rs773432002 0.00001
NM_018255.4(ELP2):c.1009G>A (p.Val337Ile)
NM_018255.4(ELP2):c.1129G>A (p.Glu377Lys)
NM_018255.4(ELP2):c.1223C>T (p.Thr408Ile)
NM_018255.4(ELP2):c.1229A>G (p.Gln410Arg)
NM_018255.4(ELP2):c.1243T>C (p.Phe415Leu)
NM_018255.4(ELP2):c.1249C>T (p.Pro417Ser)
NM_018255.4(ELP2):c.1403G>A (p.Arg468Gln)
NM_018255.4(ELP2):c.1528T>C (p.Phe510Leu)
NM_018255.4(ELP2):c.1535G>A (p.Gly512Glu)
NM_018255.4(ELP2):c.1661A>G (p.Asn554Ser)
NM_018255.4(ELP2):c.1688+3A>G
NM_018255.4(ELP2):c.1691A>G (p.Tyr564Cys)
NM_018255.4(ELP2):c.1726A>T (p.Asn576Tyr)
NM_018255.4(ELP2):c.1741_1742del (p.Leu581fs)
NM_018255.4(ELP2):c.1778A>G (p.His593Arg)
NM_018255.4(ELP2):c.1852A>G (p.Thr618Ala)
NM_018255.4(ELP2):c.1930C>G (p.Gln644Glu)
NM_018255.4(ELP2):c.1970T>G (p.Leu657Arg)
NM_018255.4(ELP2):c.2066G>A (p.Arg689Gln)
NM_018255.4(ELP2):c.212A>G (p.Asp71Gly)
NM_018255.4(ELP2):c.2155G>A (p.Val719Met)
NM_018255.4(ELP2):c.217+2dup
NM_018255.4(ELP2):c.2206C>G (p.Gln736Glu)
NM_018255.4(ELP2):c.2295C>A (p.Asp765Glu)
NM_018255.4(ELP2):c.2299A>G (p.Thr767Ala)
NM_018255.4(ELP2):c.2396C>G (p.Ala799Gly)
NM_018255.4(ELP2):c.2426G>C (p.Ser809Thr)
NM_018255.4(ELP2):c.26C>T (p.Ser9Phe)
NM_018255.4(ELP2):c.31G>C (p.Val11Leu)
NM_018255.4(ELP2):c.390C>G (p.Ile130Met)
NM_018255.4(ELP2):c.397G>A (p.Ala133Thr)
NM_018255.4(ELP2):c.419G>A (p.Arg140Gln)
NM_018255.4(ELP2):c.497G>A (p.Cys166Tyr)
NM_018255.4(ELP2):c.523+610T>C
NM_018255.4(ELP2):c.523+648G>A
NM_018255.4(ELP2):c.523+652C>T
NM_018255.4(ELP2):c.523+678G>A
NM_018255.4(ELP2):c.56G>A (p.Arg19Gln)
NM_018255.4(ELP2):c.607C>T (p.Leu203Phe)
NM_018255.4(ELP2):c.656-3T>C
NM_018255.4(ELP2):c.808G>A (p.Ala270Thr)
NM_018255.4(ELP2):c.829A>G (p.Thr277Ala)

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