List of variants in gene ELP1 reported as pathogenic for Riley-Day syndrome

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_003640.5(ELP1):c.2204+6T>C	rs111033171	0.00051
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter)	rs376078668	0.00004
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter)	rs767527819	0.00002
NC_000009.11:g.(111644468_111651611)_(111696613_?)del
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)	rs137853022
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu)	rs28939712
NM_003640.5(ELP1):c.3343G>T (p.Glu1115Ter)	rs906880093
NM_003640.5(ELP1):c.620_621del (p.Phe207fs)
NM_003640.5(ELP1):c.882G>A (p.Trp294Ter)
NM_003640.5(ELP1):c.89_90del (p.Gln30fs)

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