ClinVar Miner

List of variants in gene ELOVL5 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_021814.5(ELOVL5):c.246+3891C>T rs150583340 0.00704
NM_021814.5(ELOVL5):c.860del (p.Leu287fs) rs748688593 0.00014
NM_021814.5(ELOVL5):c.8A>G (p.His3Arg) rs371969953 0.00010
NM_021814.5(ELOVL5):c.190A>T (p.Ile64Phe)
NM_021814.5(ELOVL5):c.246+3865G>T
NM_021814.5(ELOVL5):c.871G>A (p.Val291Met)
NM_021814.5(ELOVL5):c.97A>T (p.Ile33Leu)

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