List of variants in gene ECEL1 reported as uncertain significance for congenital limb malformation

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_004826.4(ECEL1):c.512G>C (p.Gly171Ala)	rs774385170	0.00026
NM_004826.4(ECEL1):c.100C>T (p.Pro34Ser)	rs955251142	0.00021
NM_004826.4(ECEL1):c.494T>C (p.Leu165Pro)	rs765305996	0.00004
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys)	rs532757890	0.00001
NM_004826.4(ECEL1):c.1199A>C (p.Tyr400Ser)
NM_004826.4(ECEL1):c.1477G>A (p.Ala493Thr)
NM_004826.4(ECEL1):c.1630C>T (p.Arg544Cys)	rs753016147
NM_004826.4(ECEL1):c.1810G>A (p.Gly604Arg)
NM_004826.4(ECEL1):c.1865-3C>G
NM_004826.4(ECEL1):c.1916C>T (p.Ser639Phe)	rs768971199
NM_004826.4(ECEL1):c.1924C>G (p.Arg642Gly)
NM_004826.4(ECEL1):c.2012G>A (p.Gly671Glu)
NM_004826.4(ECEL1):c.2039T>G (p.Leu680Arg)
NM_004826.4(ECEL1):c.2228G>T (p.Arg743Met)	rs1575074612
NM_004826.4(ECEL1):c.2279G>T (p.Cys760Phe)
NM_004826.4(ECEL1):c.2314T>C (p.Cys772Arg)
NM_004826.4(ECEL1):c.2320G>A (p.Val774Met)
NM_004826.4(ECEL1):c.367T>C (p.Cys123Arg)
NM_004826.4(ECEL1):c.98T>A (p.Leu33Gln)

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