ClinVar Miner

List of variants studied for Riley-Day syndrome by Counsyl

Included ClinVar conditions (1):
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Total variants: 72
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HGVS dbSNP
NM_003640.3(ELP1):c.-59_-56+15del19 rs993537831
NM_003640.3(ELP1):c.2204+6T>C rs111033171
NM_003640.4(ELP1):c.1154del (p.Ser385Terfs) rs774890086
NM_003640.4(ELP1):c.1189+1G>A rs1554699327
NM_003640.4(ELP1):c.1360+1G>T rs1201626345
NM_003640.4(ELP1):c.1461-1G>A rs539544212
NM_003640.4(ELP1):c.1461-1G>T rs539544212
NM_003640.4(ELP1):c.1461-2A>G rs866046915
NM_003640.4(ELP1):c.1469_1470del (p.Phe490Terfs) rs1554698037
NM_003640.4(ELP1):c.147_150+1dup rs1319053366
NM_003640.4(ELP1):c.150+1G>A rs1554703831
NM_003640.4(ELP1):c.151-1G>A rs1554703613
NM_003640.4(ELP1):c.151-1G>T rs1554703613
NM_003640.4(ELP1):c.1542C>T (p.Phe514=) rs267602078
NM_003640.4(ELP1):c.1614G>C (p.Met538Ile) rs749608070
NM_003640.4(ELP1):c.169T>C (p.Leu57=) rs886063349
NM_003640.4(ELP1):c.1708_1710del (p.Val570del) rs1554697136
NM_003640.4(ELP1):c.1750+1G>T rs770668926
NM_003640.4(ELP1):c.1751-2A>T rs1554697001
NM_003640.4(ELP1):c.1775_1780del (p.Pro592_Lys594delinsGln) rs749959888
NM_003640.4(ELP1):c.1854+1G>A rs1554696934
NM_003640.4(ELP1):c.1902_1903del (p.Ile635Terfs) rs1554696650
NM_003640.4(ELP1):c.1908+2T>A rs1554696648
NM_003640.4(ELP1):c.1944_1946del (p.Asp648del) rs1554696595
NM_003640.4(ELP1):c.1973A>G (p.His658Arg) rs372151936
NM_003640.4(ELP1):c.1982_1993del (p.Gln661_Cys664del) rs1554696580
NM_003640.4(ELP1):c.1A>T (p.Met1Leu) rs1554703907
NM_003640.4(ELP1):c.2014+1G>A rs1554696574
NM_003640.4(ELP1):c.2076dupG (p.Arg693Glufs) rs763445509
NM_003640.4(ELP1):c.2158delC (p.His720Ilefs) rs1057516865
NM_003640.4(ELP1):c.2204+1G>A rs1057517169
NM_003640.4(ELP1):c.2205-1G>C rs1554695846
NM_003640.4(ELP1):c.2308_2310del (p.Phe770del) rs1554695751
NM_003640.4(ELP1):c.2370A>G (p.Glu790=) rs772114554
NM_003640.4(ELP1):c.2370_2372del (p.Glu790del) rs750344128
NM_003640.4(ELP1):c.2398_2400dup (p.Pro800_Val801insPro) rs1358881100
NM_003640.4(ELP1):c.2587+2T>G rs1554695299
NM_003640.4(ELP1):c.2598C>T (p.Pro866=) rs773218149
NM_003640.4(ELP1):c.2817C>A (p.Tyr939Ter) rs749052963
NM_003640.4(ELP1):c.2860+2T>C rs754348901
NM_003640.4(ELP1):c.2958+1G>C rs1239081703
NM_003640.4(ELP1):c.2992_3003del (p.Gln998_Met1001del) rs1376166738
NM_003640.4(ELP1):c.304-2A>G rs757972943
NM_003640.4(ELP1):c.3223-16C>G rs372907186
NM_003640.4(ELP1):c.3346+1G>A rs760774999
NM_003640.4(ELP1):c.3358_3360dup (p.Tyr1120_Met1121insTyr) rs1554691848
NM_003640.4(ELP1):c.3397C>T (p.Arg1133Cys) rs372499865
NM_003640.4(ELP1):c.3469G>A (p.Val1157Ile) rs886063346
NM_003640.4(ELP1):c.3573-7C>G rs370571926
NM_003640.4(ELP1):c.3590G>A (p.Arg1197His) rs886063345
NM_003640.4(ELP1):c.3592C>T (p.Arg1198Ter) rs376078668
NM_003640.4(ELP1):c.3622_3624del (p.Lys1208del) rs1453695293
NM_003640.4(ELP1):c.3701-1G>A rs1554691572
NM_003640.4(ELP1):c.3701-6C>G rs148535504
NM_003640.4(ELP1):c.3784dup (p.Thr1262Asnfs) rs1554691544
NM_003640.4(ELP1):c.385+1G>A rs1554703061
NM_003640.4(ELP1):c.386-2A>C rs1554702880
NM_003640.4(ELP1):c.3917C>A (p.Ser1306Ter) rs780649768
NM_003640.4(ELP1):c.3931+14C>G rs555520875
NM_003640.4(ELP1):c.3931+1G>T rs143674809
NM_003640.4(ELP1):c.3937G>T (p.Glu1313Ter) rs1554735745
NM_003640.4(ELP1):c.3977G>A (p.Trp1326Ter) rs1554735724
NM_003640.4(ELP1):c.4C>T (p.Arg2Ter) rs926177767
NM_003640.4(ELP1):c.54del (p.Asn20Ilefs) rs1554703874
NM_003640.4(ELP1):c.552+1G>T rs765572951
NM_003640.4(ELP1):c.552+2T>A rs1554702142
NM_003640.4(ELP1):c.552+2dup rs1554702145
NM_003640.4(ELP1):c.641delC (p.Pro214Glnfs) rs759412460
NM_003640.4(ELP1):c.79C>T (p.Arg27Ter) rs868073099
NM_003640.4(ELP1):c.818_829del (p.Leu273_Gly276del) rs1554700891
NM_003640.4(ELP1):c.97del (p.Val33Cysfs) rs1554703851
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022

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