ClinVar Miner

List of variants reported as likely pathogenic for Familial dysautonomia

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Total variants: 50
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HGVS dbSNP
NC_000009.12:g.(?_108869105)_(108903679_?)del
NC_000009.12:g.(?_108869115)_(108901681_?)del
NM_003640.5(ELP1):c.1154del (p.Asn384_Ser385insTer) rs774890086
NM_003640.5(ELP1):c.1189+1G>A rs1554699327
NM_003640.5(ELP1):c.1360+1G>T rs1201626345
NM_003640.5(ELP1):c.1461-1G>A rs539544212
NM_003640.5(ELP1):c.1461-1G>T rs539544212
NM_003640.5(ELP1):c.1461-2A>G rs866046915
NM_003640.5(ELP1):c.1469_1470del (p.Gln489_Phe490insTer) rs1554698037
NM_003640.5(ELP1):c.147_150+1dup rs1319053366
NM_003640.5(ELP1):c.150+1G>A rs1554703831
NM_003640.5(ELP1):c.151-1G>A rs1554703613
NM_003640.5(ELP1):c.151-1G>T rs1554703613
NM_003640.5(ELP1):c.1750+1G>T rs770668926
NM_003640.5(ELP1):c.1751-2A>T rs1554697001
NM_003640.5(ELP1):c.1854+1G>A rs1554696934
NM_003640.5(ELP1):c.1902_1903del (p.Asp634_Ile635insTer) rs1554696650
NM_003640.5(ELP1):c.1908+2T>A rs1554696648
NM_003640.5(ELP1):c.1A>T (p.Met1Leu) rs1554703907
NM_003640.5(ELP1):c.2014+1G>A rs1554696574
NM_003640.5(ELP1):c.2076dup (p.Arg693fs) rs763445509
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_003640.5(ELP1):c.2158del (p.His720fs) rs1057516865
NM_003640.5(ELP1):c.2204+1G>A rs1057517169
NM_003640.5(ELP1):c.2205-1G>C rs1554695846
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter) rs767527819
NM_003640.5(ELP1):c.2587+2T>G rs1554695299
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu) rs28939712
NM_003640.5(ELP1):c.2817C>A (p.Tyr939Ter) rs749052963
NM_003640.5(ELP1):c.2860+2T>C rs754348901
NM_003640.5(ELP1):c.2958+1G>C rs1239081703
NM_003640.5(ELP1):c.304-2A>G rs757972943
NM_003640.5(ELP1):c.3285+2T>C rs1554692181
NM_003640.5(ELP1):c.3346+1G>A rs760774999
NM_003640.5(ELP1):c.3572+1G>A rs571348995
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter) rs376078668
NM_003640.5(ELP1):c.3643dup (p.Asp1215fs) rs781333644
NM_003640.5(ELP1):c.3701-1G>A rs1554691572
NM_003640.5(ELP1):c.385+1G>A rs1554703061
NM_003640.5(ELP1):c.386-2A>C rs1554702880
NM_003640.5(ELP1):c.3931+1G>T rs143674809
NM_003640.5(ELP1):c.3956del (p.Lys1319fs)
NM_003640.5(ELP1):c.4C>T (p.Arg2Ter) rs926177767
NM_003640.5(ELP1):c.54del (p.Asn20fs) rs1554703874
NM_003640.5(ELP1):c.552+1G>T rs765572951
NM_003640.5(ELP1):c.552+2T>A rs1554702142
NM_003640.5(ELP1):c.641del (p.Pro214fs) rs759412460
NM_003640.5(ELP1):c.79C>T (p.Arg27Ter) rs868073099
NM_003640.5(ELP1):c.954_958+7del
NM_003640.5(ELP1):c.97del (p.Val33fs) rs1554703851

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