ClinVar Miner

List of variants studied for Riley-Day syndrome by Invitae

Included ClinVar conditions (1):
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Minimum conflict level:
ClinVar version:
Total variants: 102
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HGVS dbSNP
NC_000009.11:g.(?_111631385)_(111665959_?)del
NC_000009.11:g.(?_111631395)_(111663961_?)del
NC_000009.11:g.(?_111693257)_(111693446_?)dup
NM_003640.5(ELP1):c.1043C>T (p.Ser348Phe)
NM_003640.5(ELP1):c.1050G>A (p.Met350Ile) rs918763626
NM_003640.5(ELP1):c.1060G>T (p.Val354Leu)
NM_003640.5(ELP1):c.1084C>T (p.Leu362Phe) rs774132326
NM_003640.5(ELP1):c.1094G>T (p.Gly365Val) rs1564096412
NM_003640.5(ELP1):c.1135C>G (p.Arg379Gly) rs766255360
NM_003640.5(ELP1):c.1135C>T (p.Arg379Trp) rs766255360
NM_003640.5(ELP1):c.1169A>G (p.Asn390Ser) rs1273486554
NM_003640.5(ELP1):c.1175C>T (p.Ala392Val) rs1554699340
NM_003640.5(ELP1):c.1214G>A (p.Arg405Gln) rs369242781
NM_003640.5(ELP1):c.1251A>G (p.Gln417=) rs763812233
NM_003640.5(ELP1):c.1309A>C (p.Asn437His)
NM_003640.5(ELP1):c.1436_1438CTC[1] (p.Pro480del) rs746116617
NM_003640.5(ELP1):c.1457A>G (p.Tyr486Cys) rs764155403
NM_003640.5(ELP1):c.1460+3A>G rs1564093432
NM_003640.5(ELP1):c.1499C>T (p.Pro500Leu) rs779307491
NM_003640.5(ELP1):c.1529A>G (p.Glu510Gly) rs755282356
NM_003640.5(ELP1):c.1537G>A (p.Val513Ile) rs201706900
NM_003640.5(ELP1):c.154A>G (p.Lys52Glu) rs143494120
NM_003640.5(ELP1):c.1573C>T (p.Arg525Trp) rs766737737
NM_003640.5(ELP1):c.1613T>C (p.Met538Thr)
NM_003640.5(ELP1):c.1614G>C (p.Met538Ile) rs749608070
NM_003640.5(ELP1):c.1768A>G (p.Ile590Val) rs369856286
NM_003640.5(ELP1):c.1792G>A (p.Gly598Arg) rs886063347
NM_003640.5(ELP1):c.1854+3A>G
NM_003640.5(ELP1):c.1925C>T (p.Thr642Met) rs377020122
NM_003640.5(ELP1):c.1961C>A (p.Thr654Lys) rs764320309
NM_003640.5(ELP1):c.1973A>G (p.His658Arg) rs372151936
NM_003640.5(ELP1):c.2006C>A (p.Ser669Ter)
NM_003640.5(ELP1):c.2032A>G (p.Ser678Gly) rs756120509
NM_003640.5(ELP1):c.2052T>A (p.His684Gln) rs1321906641
NM_003640.5(ELP1):c.2068A>G (p.Lys690Glu) rs761858315
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_003640.5(ELP1):c.209G>T (p.Arg70Leu) rs111936933
NM_003640.5(ELP1):c.2134C>T (p.Pro712Ser) rs370772658
NM_003640.5(ELP1):c.2224T>C (p.Phe742Leu) rs1564085701
NM_003640.5(ELP1):c.2243T>G (p.Leu748Arg)
NM_003640.5(ELP1):c.2254C>A (p.Leu752Ile) rs182287137
NM_003640.5(ELP1):c.2284G>A (p.Val762Met) rs146338880
NM_003640.5(ELP1):c.22C>T (p.Arg8Trp) rs150202264
NM_003640.5(ELP1):c.2321T>C (p.Ile774Thr)
NM_003640.5(ELP1):c.2325T>G (p.Asp775Glu) rs757701039
NM_003640.5(ELP1):c.2359T>C (p.Leu787=) rs931451775
NM_003640.5(ELP1):c.235G>C (p.Asp79His) rs1554703582
NM_003640.5(ELP1):c.2378C>T (p.Thr793Met)
NM_003640.5(ELP1):c.23G>A (p.Arg8Gln) rs370041985
NM_003640.5(ELP1):c.23G>T (p.Arg8Leu) rs370041985
NM_003640.5(ELP1):c.2461G>A (p.Asp821Asn) rs770590151
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter) rs767527819
NM_003640.5(ELP1):c.2505C>A (p.Tyr835Ter) rs1564084140
NM_003640.5(ELP1):c.2588-6T>G rs1350078150
NM_003640.5(ELP1):c.2629G>A (p.Ala877Thr)
NM_003640.5(ELP1):c.270A>T (p.Gly90=) rs200640674
NM_003640.5(ELP1):c.274G>A (p.Val92Ile) rs757852635
NM_003640.5(ELP1):c.2778A>G (p.Lys926=) rs751179612
NM_003640.5(ELP1):c.2801T>G (p.Phe934Cys) rs776891269
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser) rs145484092
NM_003640.5(ELP1):c.2806A>G (p.Ile936Val) rs1239561807
NM_003640.5(ELP1):c.2845C>T (p.His949Tyr) rs201440191
NM_003640.5(ELP1):c.2948A>T (p.Gln983Leu) rs749200669
NM_003640.5(ELP1):c.3014C>T (p.Ala1005Val) rs55658431
NM_003640.5(ELP1):c.303+3A>G rs766433871
NM_003640.5(ELP1):c.3032G>A (p.Arg1011His) rs368999377
NM_003640.5(ELP1):c.3126A>T (p.Lys1042Asn) rs1554694121
NM_003640.5(ELP1):c.3151A>G (p.Thr1051Ala) rs148548795
NM_003640.5(ELP1):c.3194C>T (p.Ala1065Val)
NM_003640.5(ELP1):c.3213G>C (p.Glu1071Asp) rs140024352
NM_003640.5(ELP1):c.322G>A (p.Val108Ile) rs192047457
NM_003640.5(ELP1):c.3259G>A (p.Ala1087Thr) rs61749203
NM_003640.5(ELP1):c.3285+2T>C rs1554692181
NM_003640.5(ELP1):c.3285+6A>T rs1465325866
NM_003640.5(ELP1):c.3325G>A (p.Val1109Ile) rs761896714
NM_003640.5(ELP1):c.3417G>C (p.Leu1139Phe) rs202080366
NM_003640.5(ELP1):c.3454G>A (p.Gly1152Ser)
NM_003640.5(ELP1):c.3478G>A (p.Gly1160Arg)
NM_003640.5(ELP1):c.349del (p.Trp117fs)
NM_003640.5(ELP1):c.3527G>A (p.Ser1176Asn) rs749668335
NM_003640.5(ELP1):c.3572+1G>A
NM_003640.5(ELP1):c.3572+5G>C rs773132143
NM_003640.5(ELP1):c.3572+5G>T rs773132143
NM_003640.5(ELP1):c.3688G>C (p.Glu1230Gln) rs764936574
NM_003640.5(ELP1):c.3767A>G (p.Gln1256Arg) rs766517046
NM_003640.5(ELP1):c.3854C>T (p.Pro1285Leu) rs199813856
NM_003640.5(ELP1):c.3908A>G (p.Gln1303Arg) rs1554737851
NM_003640.5(ELP1):c.3917C>T (p.Ser1306Leu) rs780649768
NM_003640.5(ELP1):c.3931+1G>A rs143674809
NM_003640.5(ELP1):c.3937G>A (p.Glu1313Lys) rs1554735745
NM_003640.5(ELP1):c.520G>A (p.Glu174Lys) rs758924768
NM_003640.5(ELP1):c.536C>G (p.Ala179Gly) rs758442235
NM_003640.5(ELP1):c.602G>A (p.Arg201Gln)
NM_003640.5(ELP1):c.602G>C (p.Arg201Pro) rs367552387
NM_003640.5(ELP1):c.606G>T (p.Gly202=) rs768309637
NM_003640.5(ELP1):c.649+3A>G rs1554701323
NM_003640.5(ELP1):c.697A>G (p.Thr233Ala) rs1356812138
NM_003640.5(ELP1):c.703G>A (p.Glu235Lys)
NM_003640.5(ELP1):c.778C>T (p.Pro260Ser)
NM_003640.5(ELP1):c.80G>A (p.Arg27Gln) rs375666523
NM_003640.5(ELP1):c.842C>T (p.Pro281Leu) rs770755917
NM_003640.5(ELP1):c.856G>C (p.Glu286Gln) rs777790000

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