ClinVar Miner

List of variants in gene SRP54 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 272
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003136.4(SRP54):c.361-48G>A rs1712351 0.83353
NM_003136.4(SRP54):c.360+80G>A rs28456062 0.74608
NM_003136.4(SRP54):c.79-132C>T rs28627922 0.36027
NM_003136.4(SRP54):c.170+38T>A rs12433712 0.36026
NM_003136.4(SRP54):c.785+97A>G rs2383692 0.33844
NM_003136.4(SRP54):c.637-104A>G rs2383691 0.33842
NM_003136.4(SRP54):c.1156+29A>G rs17102982 0.33714
NM_003136.4(SRP54):c.171-93G>A rs8017225 0.20960
NM_003136.4(SRP54):c.171-151G>A rs8017191 0.19268
NM_003136.4(SRP54):c.486-146T>G rs17102970 0.19262
NM_003136.4(SRP54):c.171-123T>C rs8018114 0.18921
NM_003136.4(SRP54):c.*85G>A rs28577270 0.16802
NM_003136.4(SRP54):c.*127C>T rs11540758 0.16785
NM_003136.4(SRP54):c.1327+16_1327+32del rs369856554 0.16649
NM_003136.4(SRP54):c.-33-99T>A rs2273158 0.16616
NM_003136.4(SRP54):c.1328-9T>C rs78609489 0.14170
NM_003136.4(SRP54):c.1424-185T>A rs12435308 0.11969
NM_003136.4(SRP54):c.1328-28C>T rs17510813 0.07699
NM_003136.4(SRP54):c.428-15C>T rs115840076 0.00684
NM_003136.4(SRP54):c.894C>T (p.Gly298=) rs61754298 0.00459
NM_003136.4(SRP54):c.48G>A (p.Ser16=) rs17849754 0.00412
NM_003136.4(SRP54):c.1328-20C>G rs187796104 0.00172
NM_003136.4(SRP54):c.636A>C (p.Ile212=) rs140228686 0.00113
NM_003136.4(SRP54):c.1328-10T>C rs571366721 0.00021
NM_003136.4(SRP54):c.*8G>A rs368338086 0.00019
NM_003136.4(SRP54):c.1169C>T (p.Thr390Met) rs144152355 0.00019
NM_003136.4(SRP54):c.21A>C (p.Gly7=) rs142480202 0.00016
NM_003136.4(SRP54):c.78+12A>G rs199722718 0.00016
NM_003136.4(SRP54):c.486-19A>G rs368962279 0.00014
NM_003136.4(SRP54):c.645T>C (p.Asp215=) rs759181554 0.00011
NM_003136.4(SRP54):c.785+11T>C rs748349038 0.00010
NM_003136.4(SRP54):c.878A>G (p.Lys293Arg) rs150290957 0.00010
NM_003136.4(SRP54):c.531G>T (p.Glu177Asp) rs201104736 0.00009
NM_003136.4(SRP54):c.817A>G (p.Ile273Val) rs746403621 0.00008
NM_003136.4(SRP54):c.1328-9_1328-8insTC rs1555355898 0.00007
NM_003136.4(SRP54):c.973+7G>A rs201693775 0.00006
NM_003136.4(SRP54):c.111C>T (p.Thr37=) rs200674081 0.00005
NM_003136.4(SRP54):c.1191T>C (p.Ser397=) rs200155234 0.00004
NM_003136.4(SRP54):c.1296A>G (p.Lys432=) rs201181084 0.00004
NM_003136.4(SRP54):c.1327+13_1327+14insC rs781268994 0.00004
NM_003136.4(SRP54):c.1423+9C>G rs377169019 0.00004
NM_003136.4(SRP54):c.298A>G (p.Lys100Glu) rs750470973 0.00004
NM_003136.4(SRP54):c.1005A>G (p.Gln335=) rs578197977 0.00003
NM_003136.4(SRP54):c.170+14A>G rs377509869 0.00003
NM_003136.4(SRP54):c.330A>G (p.Gln110=) rs751718200 0.00003
NM_003136.4(SRP54):c.339T>G (p.Gly113=) rs781380548 0.00003
NM_003136.4(SRP54):c.636+9C>T rs755898787 0.00003
NM_003136.4(SRP54):c.785+14A>G rs372845542 0.00003
NM_003136.4(SRP54):c.1048-4G>T rs766569026 0.00002
NM_003136.4(SRP54):c.1161A>G (p.Leu387=) rs149533917 0.00002
NM_003136.4(SRP54):c.1350G>C (p.Val450=) rs367667375 0.00002
NM_003136.4(SRP54):c.351A>G (p.Thr117=) rs1203436550 0.00002
NM_003136.4(SRP54):c.1026G>A (p.Met342Ile) rs957100298 0.00001
NM_003136.4(SRP54):c.1048-19A>C rs773101535 0.00001
NM_003136.4(SRP54):c.1172A>G (p.Asp391Gly) rs1397088670 0.00001
NM_003136.4(SRP54):c.1210C>G (p.Gln404Glu) rs1398862907 0.00001
NM_003136.4(SRP54):c.1228T>G (p.Ser410Ala) rs532831292 0.00001
NM_003136.4(SRP54):c.1383A>G (p.Gln461=) rs1253066066 0.00001
NM_003136.4(SRP54):c.1413T>C (p.Leu471=) rs764083360 0.00001
NM_003136.4(SRP54):c.228G>A (p.Gln76=) rs1460791522 0.00001
NM_003136.4(SRP54):c.333G>A (p.Gly111=) rs908176746 0.00001
NM_003136.4(SRP54):c.33A>G (p.Thr11=) rs2044078546 0.00001
NM_003136.4(SRP54):c.361-19T>G rs746865581 0.00001
NM_003136.4(SRP54):c.47C>T (p.Ser16Leu) rs775147862 0.00001
NM_003136.4(SRP54):c.49T>C (p.Leu17=) rs1276987345 0.00001
NM_003136.4(SRP54):c.636+15A>G rs753737708 0.00001
NM_003136.4(SRP54):c.690A>G (p.Glu230=) rs2044386900 0.00001
NM_003136.4(SRP54):c.790G>A (p.Ala264Thr) rs756132942 0.00001
NM_003136.4(SRP54):c.924C>T (p.Asn308=) rs759339076 0.00001
NM_003136.4(SRP54):c.950C>T (p.Ala317Val) rs764261072 0.00001
NM_003136.4(SRP54):c.973+13C>G rs753434952 0.00001
GRCh37/hg19 14q13.2(chr14:35438691-35504578)x1
NC_000014.8:g.(?_35465916)_(35488300_?)dup
NC_000014.8:g.(?_35465916)_(35498358_?)del
NC_000014.8:g.(?_35465916)_(35498358_?)dup
NC_000014.8:g.(?_35488152)_(35498358_?)dup
NM_003136.4(SRP54):c.1002G>T (p.Glu334Asp)
NM_003136.4(SRP54):c.1032C>G (p.Pro344=)
NM_003136.4(SRP54):c.103G>A (p.Val35Ile)
NM_003136.4(SRP54):c.1044C>T (p.Ile348=) rs2044480318
NM_003136.4(SRP54):c.1047+12T>G
NM_003136.4(SRP54):c.1048-20T>G
NM_003136.4(SRP54):c.1048-3T>C
NM_003136.4(SRP54):c.1065T>G (p.Phe355Leu)
NM_003136.4(SRP54):c.1105A>G (p.Met369Val)
NM_003136.4(SRP54):c.1105A>T (p.Met369Leu)
NM_003136.4(SRP54):c.1121A>G (p.Lys374Arg)
NM_003136.4(SRP54):c.1122_1132dup (p.Ile378delinsAsnTer) rs2139017176
NM_003136.4(SRP54):c.1139A>G (p.Asp380Gly)
NM_003136.4(SRP54):c.1156+15T>C rs1331145176
NM_003136.4(SRP54):c.1156+16A>C
NM_003136.4(SRP54):c.1157-3C>T
NM_003136.4(SRP54):c.1157-9T>C
NM_003136.4(SRP54):c.1166G>A (p.Ser389Asn) rs2139023933
NM_003136.4(SRP54):c.1170G>A (p.Thr390=)
NM_003136.4(SRP54):c.1178C>G (p.Ala393Gly)
NM_003136.4(SRP54):c.1179C>G (p.Ala393=)
NM_003136.4(SRP54):c.1184T>G (p.Val395Gly)
NM_003136.4(SRP54):c.1216G>A (p.Val406Ile)
NM_003136.4(SRP54):c.1223G>C (p.Arg408Thr)
NM_003136.4(SRP54):c.1227A>T (p.Gly409=)
NM_003136.4(SRP54):c.1240A>G (p.Thr414Ala)
NM_003136.4(SRP54):c.1257A>T (p.Glu419Asp)
NM_003136.4(SRP54):c.1261T>C (p.Leu421=)
NM_003136.4(SRP54):c.1327+11T>C
NM_003136.4(SRP54):c.1327+15C>T
NM_003136.4(SRP54):c.1327+15_1327+32del rs150905407
NM_003136.4(SRP54):c.1327+16_1327+34del rs1166460247
NM_003136.4(SRP54):c.1327+185del rs146885176
NM_003136.4(SRP54):c.1327+18G>A rs762344147
NM_003136.4(SRP54):c.1328-10_1328-9delinsCC
NM_003136.4(SRP54):c.1328-10_1328-9insC rs775966251
NM_003136.4(SRP54):c.1328-17T>C
NM_003136.4(SRP54):c.1328-18T>G
NM_003136.4(SRP54):c.1328-3C>T
NM_003136.4(SRP54):c.1328-4T>C
NM_003136.4(SRP54):c.1328-5del
NM_003136.4(SRP54):c.1328-5dup
NM_003136.4(SRP54):c.1328-6C>T
NM_003136.4(SRP54):c.1328-9del rs369411374
NM_003136.4(SRP54):c.1328-9dup rs369411374
NM_003136.4(SRP54):c.1332C>T (p.Gly444=)
NM_003136.4(SRP54):c.13G>A (p.Asp5Asn)
NM_003136.4(SRP54):c.1419C>T (p.His473=)
NM_003136.4(SRP54):c.1423+12G>A
NM_003136.4(SRP54):c.1423+14T>C
NM_003136.4(SRP54):c.1423+18G>C
NM_003136.4(SRP54):c.1423+4A>G
NM_003136.4(SRP54):c.1423+7dup
NM_003136.4(SRP54):c.1423+8C>A rs2139034147
NM_003136.4(SRP54):c.1424-15C>T
NM_003136.4(SRP54):c.1424-19T>A
NM_003136.4(SRP54):c.1424-5T>G
NM_003136.4(SRP54):c.1473T>A (p.Ala491=)
NM_003136.4(SRP54):c.1483A>T (p.Met495Leu)
NM_003136.4(SRP54):c.1488del (p.Gly497fs)
NM_003136.4(SRP54):c.1496T>C (p.Met499Thr)
NM_003136.4(SRP54):c.1498G>A (p.Gly500Arg) rs2139035690
NM_003136.4(SRP54):c.1507A>C (p.Asn503His)
NM_003136.4(SRP54):c.164A>G (p.Asn55Ser)
NM_003136.4(SRP54):c.16C>T (p.Leu6Phe)
NM_003136.4(SRP54):c.170+10del rs772528008
NM_003136.4(SRP54):c.170+19G>A
NM_003136.4(SRP54):c.170+20T>A
NM_003136.4(SRP54):c.170+20T>G rs2044139513
NM_003136.4(SRP54):c.171-4A>G
NM_003136.4(SRP54):c.222G>T (p.Met74Ile)
NM_003136.4(SRP54):c.223A>G (p.Ile75Val) rs2138983826
NM_003136.4(SRP54):c.248T>A (p.Leu83His)
NM_003136.4(SRP54):c.255+13G>A
NM_003136.4(SRP54):c.255+170_255+172dup rs10637082
NM_003136.4(SRP54):c.255+172dup rs10637082
NM_003136.4(SRP54):c.255+189C>G rs8017611
NM_003136.4(SRP54):c.255+19T>C
NM_003136.4(SRP54):c.255+4A>C
NM_003136.4(SRP54):c.255+7G>A
NM_003136.4(SRP54):c.255+7G>C
NM_003136.4(SRP54):c.256-20_256-10del
NM_003136.4(SRP54):c.270A>G (p.Gly90=)
NM_003136.4(SRP54):c.277G>C (p.Ala93Pro) rs2138995537
NM_003136.4(SRP54):c.283A>G (p.Thr95Ala)
NM_003136.4(SRP54):c.289A>C (p.Thr97Pro)
NM_003136.4(SRP54):c.290C>T (p.Thr97Ile) rs1366664904
NM_003136.4(SRP54):c.292A>G (p.Lys98Glu)
NM_003136.4(SRP54):c.318T>A (p.Phe106Leu)
NM_003136.4(SRP54):c.324A>G (p.Gly108=)
NM_003136.4(SRP54):c.325T>C (p.Leu109=)
NM_003136.4(SRP54):c.337G>C (p.Gly113Arg) rs1594996301
NM_003136.4(SRP54):c.339T>C (p.Gly113=)
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) rs1555354198
NM_003136.4(SRP54):c.360+14_360+15del
NM_003136.4(SRP54):c.361-12T>G
NM_003136.4(SRP54):c.363A>G (p.Leu121=)
NM_003136.4(SRP54):c.373T>C (p.Tyr125His) rs2138999055
NM_003136.4(SRP54):c.374A>T (p.Tyr125Phe)
NM_003136.4(SRP54):c.375C>T (p.Tyr125=) rs527550341
NM_003136.4(SRP54):c.380G>A (p.Arg127Lys)
NM_003136.4(SRP54):c.385G>A (p.Gly129Ser)
NM_003136.4(SRP54):c.394A>T (p.Thr132Ser)
NM_003136.4(SRP54):c.427+14A>G
NM_003136.4(SRP54):c.428-17_428-14dup
NM_003136.4(SRP54):c.429G>A (p.Gly143=) rs2044307559
NM_003136.4(SRP54):c.431C>A (p.Ala144Asp) rs2138999282
NM_003136.4(SRP54):c.43C>T (p.Arg15Cys)
NM_003136.4(SRP54):c.444A>G (p.Leu148=) rs1449716007
NM_003136.4(SRP54):c.453T>C (p.Asn151=)
NM_003136.4(SRP54):c.453T>G (p.Asn151Lys)
NM_003136.4(SRP54):c.458C>T (p.Thr153Ile)
NM_003136.4(SRP54):c.459C>T (p.Thr153=)
NM_003136.4(SRP54):c.470_484del (p.Ile157_Gly161del)
NM_003136.4(SRP54):c.485+10T>C
NM_003136.4(SRP54):c.485+11G>A
NM_003136.4(SRP54):c.485+17T>C
NM_003136.4(SRP54):c.485+5G>T rs2138999348
NM_003136.4(SRP54):c.485+73dup rs35812379
NM_003136.4(SRP54):c.485+8A>G
NM_003136.4(SRP54):c.486-11A>G
NM_003136.4(SRP54):c.486-13C>A
NM_003136.4(SRP54):c.486-17T>C
NM_003136.4(SRP54):c.486-4A>G
NM_003136.4(SRP54):c.486-6A>G
NM_003136.4(SRP54):c.486-9G>A
NM_003136.4(SRP54):c.510C>G (p.Ile170Met)
NM_003136.4(SRP54):c.515C>T (p.Ala172Val)
NM_003136.4(SRP54):c.524G>A (p.Gly175Glu) rs1566651484
NM_003136.4(SRP54):c.533A>C (p.Lys178Thr)
NM_003136.4(SRP54):c.539A>G (p.Lys180Arg)
NM_003136.4(SRP54):c.556A>G (p.Ile186Val)
NM_003136.4(SRP54):c.559A>C (p.Ile187Leu)
NM_003136.4(SRP54):c.560T>C (p.Ile187Thr)
NM_003136.4(SRP54):c.561T>G (p.Ile187Met)
NM_003136.4(SRP54):c.569A>G (p.Asp190Gly)
NM_003136.4(SRP54):c.599_602del (p.Ser200fs)
NM_003136.4(SRP54):c.5T>G (p.Val2Gly)
NM_003136.4(SRP54):c.621A>C (p.Gln207His)
NM_003136.4(SRP54):c.636+13_636+14insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGCGTAAGTAGCTTTC
NM_003136.4(SRP54):c.636+19A>G
NM_003136.4(SRP54):c.636A>G (p.Ile212Met)
NM_003136.4(SRP54):c.649A>G (p.Ile217Val)
NM_003136.4(SRP54):c.650T>C (p.Ile217Thr) rs760322837
NM_003136.4(SRP54):c.666T>C (p.Asp222=)
NM_003136.4(SRP54):c.673A>G (p.Ile225Val) rs2139007390
NM_003136.4(SRP54):c.695A>T (p.Gln232Leu)
NM_003136.4(SRP54):c.700A>C (p.Lys234Gln)
NM_003136.4(SRP54):c.78+11T>C rs751485778
NM_003136.4(SRP54):c.78+13T>C
NM_003136.4(SRP54):c.78+3A>G
NM_003136.4(SRP54):c.78+6T>G
NM_003136.4(SRP54):c.78+9A>G rs780034695
NM_003136.4(SRP54):c.784G>A (p.Ala262Thr)
NM_003136.4(SRP54):c.785+18T>C
NM_003136.4(SRP54):c.786-11T>C
NM_003136.4(SRP54):c.786-14C>T
NM_003136.4(SRP54):c.786-17T>G
NM_003136.4(SRP54):c.786-5del
NM_003136.4(SRP54):c.786-7T>A
NM_003136.4(SRP54):c.786-8T>G
NM_003136.4(SRP54):c.789C>T (p.Val263=)
NM_003136.4(SRP54):c.79-16A>C rs1555353614
NM_003136.4(SRP54):c.79-16A>G
NM_003136.4(SRP54):c.79-17del
NM_003136.4(SRP54):c.79-9T>G
NM_003136.4(SRP54):c.795C>T (p.Ala265=)
NM_003136.4(SRP54):c.806C>T (p.Pro269Leu)
NM_003136.4(SRP54):c.807G>A (p.Pro269=) rs757742080
NM_003136.4(SRP54):c.825A>G (p.Thr275=)
NM_003136.4(SRP54):c.828G>T (p.Gly276=)
NM_003136.4(SRP54):c.835A>G (p.Ile279Val)
NM_003136.4(SRP54):c.836T>C (p.Ile279Thr)
NM_003136.4(SRP54):c.846T>C (p.Phe282=)
NM_003136.4(SRP54):c.880C>A (p.Leu294Ile)
NM_003136.4(SRP54):c.886+10G>A
NM_003136.4(SRP54):c.886+18G>T rs1235095074
NM_003136.4(SRP54):c.887-11G>A
NM_003136.4(SRP54):c.887-17T>G
NM_003136.4(SRP54):c.887-3T>C
NM_003136.4(SRP54):c.887-4A>G
NM_003136.4(SRP54):c.887-4A>T
NM_003136.4(SRP54):c.887-68A>C rs13379372
NM_003136.4(SRP54):c.887-9A>G
NM_003136.4(SRP54):c.90T>C (p.Ala30=)
NM_003136.4(SRP54):c.90T>G (p.Ala30=)
NM_003136.4(SRP54):c.928T>C (p.Leu310=)
NM_003136.4(SRP54):c.934T>C (p.Leu312=)
NM_003136.4(SRP54):c.93G>C (p.Met31Ile)
NM_003136.4(SRP54):c.94C>G (p.Leu32Val)
NM_003136.4(SRP54):c.956T>C (p.Ile319Thr)
NM_003136.4(SRP54):c.973+17A>G
NM_003136.4(SRP54):c.973+20G>A
NM_003136.4(SRP54):c.973G>A (p.Gly325Ser)
NM_003136.4(SRP54):c.984G>A (p.Thr328=)
NM_003136.4(SRP54):c.988C>T (p.Arg330Ter)

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