ClinVar Miner

List of variants in gene SGCB studied for autosomal recessive limb-girdle muscular dystrophy type 2E

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 421
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000232.5(SGCB):c.244-21T>C rs225170 0.43577
NM_000232.5(SGCB):c.92G>T (p.Ser31Ile) rs115928999 0.00262
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg) rs150395645 0.00041
NM_000232.5(SGCB):c.768C>T (p.Ile256=) rs149121189 0.00039
NM_000232.5(SGCB):c.151C>T (p.Arg51Cys) rs144743676 0.00029
NM_000232.5(SGCB):c.496A>G (p.Ile166Val) rs138877636 0.00028
NM_000232.5(SGCB):c.243+6T>A rs146888744 0.00026
NM_000232.5(SGCB):c.495C>T (p.Asp165=) rs142801720 0.00025
NM_000232.5(SGCB):c.794C>T (p.Thr265Ile) rs116214830 0.00025
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000232.5(SGCB):c.*18C>G rs191486389 0.00016
NM_000232.5(SGCB):c.392G>A (p.Arg131Gln) rs201439705 0.00013
NM_000232.5(SGCB):c.430-15C>A rs372157108 0.00013
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys) rs200761715 0.00012
NM_000232.5(SGCB):c.188A>G (p.Asn63Ser) rs377071680 0.00011
NM_000232.5(SGCB):c.152G>A (p.Arg51His) rs143751283 0.00010
NM_000232.5(SGCB):c.97A>G (p.Asn33Asp) rs753684563 0.00009
NM_000232.5(SGCB):c.105G>A (p.Glu35=) rs1214745536 0.00006
NM_000232.5(SGCB):c.443A>G (p.Gln148Arg) rs201006370 0.00005
NM_000232.5(SGCB):c.519G>A (p.Pro173=) rs755701680 0.00005
NM_000232.5(SGCB):c.841G>A (p.Asp281Asn) rs374923265 0.00005
NM_000232.5(SGCB):c.137C>T (p.Pro46Leu) rs148525453 0.00004
NM_000232.5(SGCB):c.282A>G (p.Pro94=) rs746957769 0.00004
NM_000232.5(SGCB):c.369T>C (p.Tyr123=) rs371706268 0.00004
NM_000232.5(SGCB):c.429+24G>T rs367761233 0.00004
NM_000232.5(SGCB):c.430-4G>T rs989155710 0.00004
NM_000232.5(SGCB):c.708C>T (p.Gly236=) rs770295146 0.00004
NM_000232.5(SGCB):c.715A>G (p.Ile239Val) rs868151547 0.00004
NM_000232.5(SGCB):c.744G>A (p.Glu248=) rs778608103 0.00004
NM_000232.5(SGCB):c.785T>C (p.Met262Thr) rs201923065 0.00004
NM_000232.5(SGCB):c.789C>T (p.Val263=) rs371225165 0.00004
NM_000232.5(SGCB):c.795C>G (p.Thr265=) rs1490370240 0.00004
NM_000232.5(SGCB):c.838G>A (p.Gly280Ser) rs879945095 0.00004
NM_000232.5(SGCB):c.939C>T (p.Pro313=) rs375438506 0.00004
NM_000232.5(SGCB):c.191T>C (p.Leu64Ser) rs747795143 0.00003
NM_000232.5(SGCB):c.429+13A>G rs759134929 0.00003
NM_000232.5(SGCB):c.667C>T (p.Arg223Cys) rs570232197 0.00003
NM_000232.5(SGCB):c.68G>A (p.Arg23His) rs746363403 0.00003
NM_000232.5(SGCB):c.752C>T (p.Ala251Val) rs146111013 0.00003
NM_000232.5(SGCB):c.882G>A (p.Thr294=) rs572922347 0.00003
NM_000232.5(SGCB):c.251T>C (p.Leu84Pro) rs138367908 0.00002
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys) rs555514820 0.00002
NM_000232.5(SGCB):c.327A>G (p.Arg109=) rs767994334 0.00002
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe) rs762412447 0.00002
NM_000232.5(SGCB):c.419A>G (p.Asn140Ser) rs775409967 0.00002
NM_000232.5(SGCB):c.498C>T (p.Ile166=) rs748602445 0.00002
NM_000232.5(SGCB):c.551A>G (p.Tyr184Cys) rs1365923535 0.00002
NM_000232.5(SGCB):c.558T>G (p.Thr186=) rs200167048 0.00002
NM_000232.5(SGCB):c.668G>A (p.Arg223His) rs754898211 0.00002
NM_000232.5(SGCB):c.835A>G (p.Ser279Gly) rs565410997 0.00002
NM_000232.5(SGCB):c.850C>T (p.Arg284Cys) rs545065102 0.00002
NM_000232.5(SGCB):c.933C>T (p.Asp311=) rs780557395 0.00002
NM_000232.5(SGCB):c.124G>A (p.Ala42Thr) rs1363676745 0.00001
NM_000232.5(SGCB):c.129A>T (p.Gly43=) rs1281862962 0.00001
NM_000232.5(SGCB):c.138G>A (p.Pro46=) rs532448056 0.00001
NM_000232.5(SGCB):c.140T>C (p.Ile47Thr) rs763102674 0.00001
NM_000232.5(SGCB):c.178A>G (p.Arg60Gly) rs1320144493 0.00001
NM_000232.5(SGCB):c.204G>T (p.Val68=) rs1560568801 0.00001
NM_000232.5(SGCB):c.227C>A (p.Ala76Asp) rs562380026 0.00001
NM_000232.5(SGCB):c.244-20G>A rs534867504 0.00001
NM_000232.5(SGCB):c.244A>G (p.Ile82Val) rs143106297 0.00001
NM_000232.5(SGCB):c.264C>T (p.Ala88=) rs763525400 0.00001
NM_000232.5(SGCB):c.265G>A (p.Val89Met) rs762652676 0.00001
NM_000232.5(SGCB):c.318C>A (p.Gly106=) rs1335790481 0.00001
NM_000232.5(SGCB):c.345C>T (p.Asp115=) rs886043228 0.00001
NM_000232.5(SGCB):c.370A>G (p.Lys124Glu) rs760596229 0.00001
NM_000232.5(SGCB):c.390G>A (p.Arg130=) rs781679527 0.00001
NM_000232.5(SGCB):c.429+19T>C rs1737197744 0.00001
NM_000232.5(SGCB):c.429+5G>A rs794727477 0.00001
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg) rs28936383 0.00001
NM_000232.5(SGCB):c.455A>G (p.Lys152Arg) rs1009256568 0.00001
NM_000232.5(SGCB):c.465A>G (p.Val155=) rs774413452 0.00001
NM_000232.5(SGCB):c.499G>A (p.Gly167Ser) rs779516489 0.00001
NM_000232.5(SGCB):c.502A>G (p.Met168Val) rs754465904 0.00001
NM_000232.5(SGCB):c.504G>A (p.Met168Ile) rs768628837 0.00001
NM_000232.5(SGCB):c.540C>T (p.Phe180=) rs1235498684 0.00001
NM_000232.5(SGCB):c.543C>T (p.Ser181=) rs757115090 0.00001
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro) rs751427686 0.00001
NM_000232.5(SGCB):c.556A>G (p.Thr186Ala) rs1451834188 0.00001
NM_000232.5(SGCB):c.601C>T (p.Gln201Ter) rs773554421 0.00001
NM_000232.5(SGCB):c.613A>T (p.Thr205Ser) rs202114068 0.00001
NM_000232.5(SGCB):c.621+1G>T rs1264362642 0.00001
NM_000232.5(SGCB):c.622-2A>G rs780596734 0.00001
NM_000232.5(SGCB):c.622-7T>G rs745333182 0.00001
NM_000232.5(SGCB):c.67C>T (p.Arg23Cys) rs529566743 0.00001
NM_000232.5(SGCB):c.680G>A (p.Arg227His) rs762079028 0.00001
NM_000232.5(SGCB):c.716T>C (p.Ile239Thr) rs759966387 0.00001
NM_000232.5(SGCB):c.731G>A (p.Gly244Asp) rs570902880 0.00001
NM_000232.5(SGCB):c.736A>T (p.Asn246Tyr) rs747907287 0.00001
NM_000232.5(SGCB):c.738T>C (p.Asn246=) rs1737145890 0.00001
NM_000232.5(SGCB):c.740T>C (p.Met247Thr) rs1283480940 0.00001
NM_000232.5(SGCB):c.753+8T>G rs781325990 0.00001
NM_000232.5(SGCB):c.754-13A>G rs1225812140 0.00001
NM_000232.5(SGCB):c.754-16A>G rs768400028 0.00001
NM_000232.5(SGCB):c.754-5A>G rs946854788 0.00001
NM_000232.5(SGCB):c.763A>G (p.Ile255Val) rs569029693 0.00001
NM_000232.5(SGCB):c.792C>T (p.Ser264=) rs1476325500 0.00001
NM_000232.5(SGCB):c.798C>T (p.Thr266=) rs182784793 0.00001
NM_000232.5(SGCB):c.834T>C (p.Gly278=) rs772207314 0.00001
NM_000232.5(SGCB):c.852C>T (p.Arg284=) rs1179417557 0.00001
NM_000232.5(SGCB):c.85A>T (p.Arg29Ter) rs747809412 0.00001
NM_000232.5(SGCB):c.861C>G (p.Leu287=) rs1021753591 0.00001
NM_000232.5(SGCB):c.873T>C (p.Ala291=) rs1240221402 0.00001
NM_000232.5(SGCB):c.879G>A (p.Gly293=) rs1204832968 0.00001
NM_000232.5(SGCB):c.915G>A (p.Met305Ile) rs1408223045 0.00001
NM_000232.5(SGCB):c.940T>C (p.Cys314Arg) rs573919387 0.00001
NC_000004.11:g.(?_52890123)_(52890346_?)del
NC_000004.11:g.(?_52890123)_(52904425_?)del
NC_000004.11:g.(?_52890123)_(52904425_?)dup
NC_000004.11:g.(?_52894124)_(52896039_?)del
NC_000004.11:g.(?_52894876)_(52895107_?)del
NC_000004.11:g.(?_52899577)_(52899826_?)del
NC_000004.11:g.(?_52899577)_(52899826_?)dup
NC_000004.11:g.(?_52899587)_(52899816_?)dup
NC_000004.12:g.(?_52033421)_(52033650_?)del
NM_000232.5(SGCB):c.102del (p.Glu35fs) rs2109376007
NM_000232.5(SGCB):c.110A>G (p.Asn37Ser) rs1156620837
NM_000232.5(SGCB):c.111C>T (p.Asn37=) rs2109376000
NM_000232.5(SGCB):c.112A>C (p.Ser38Arg) rs1456517729
NM_000232.5(SGCB):c.113_120delinsATAAAGAGCACA (p.Ser38fs)
NM_000232.5(SGCB):c.120T>C (p.Phe40=)
NM_000232.5(SGCB):c.121A>G (p.Lys41Glu)
NM_000232.5(SGCB):c.124_125insTTA (p.Ala42delinsValThr) rs1553940680
NM_000232.5(SGCB):c.126T>C (p.Ala42=)
NM_000232.5(SGCB):c.131A>G (p.Tyr44Cys)
NM_000232.5(SGCB):c.132C>G (p.Tyr44Ter) rs1737305761
NM_000232.5(SGCB):c.132C>T (p.Tyr44=)
NM_000232.5(SGCB):c.141T>A (p.Ile47=)
NM_000232.5(SGCB):c.150T>C (p.Asp50=) rs765583649
NM_000232.5(SGCB):c.151dup (p.Arg51fs)
NM_000232.5(SGCB):c.156C>T (p.Leu52=) rs1553940675
NM_000232.5(SGCB):c.159C>T (p.His53=)
NM_000232.5(SGCB):c.165_166del (p.Gly56fs)
NM_000232.5(SGCB):c.166G>A (p.Gly56Arg)
NM_000232.5(SGCB):c.169T>C (p.Leu57=) rs962846702
NM_000232.5(SGCB):c.195C>T (p.Ala65=)
NM_000232.5(SGCB):c.199T>C (p.Cys67Arg)
NM_000232.5(SGCB):c.216_219del (p.Phe73fs) rs1057516360
NM_000232.5(SGCB):c.222C>T (p.Ile74=)
NM_000232.5(SGCB):c.232del (p.Ile78fs)
NM_000232.5(SGCB):c.241A>G (p.Ile81Val) rs1560568792
NM_000232.5(SGCB):c.243+11G>A
NM_000232.5(SGCB):c.243+11G>C
NM_000232.5(SGCB):c.243+1548T>C
NM_000232.5(SGCB):c.243+17A>G
NM_000232.5(SGCB):c.243+1G>T rs1553940663
NM_000232.5(SGCB):c.243+2T>C rs1553940661
NM_000232.5(SGCB):c.243+2T>G rs1553940661
NM_000232.5(SGCB):c.243+3_243+6del rs1553940660
NM_000232.5(SGCB):c.244-10T>G rs2109372120
NM_000232.5(SGCB):c.244-12G>A
NM_000232.5(SGCB):c.244-14G>A
NM_000232.5(SGCB):c.244-17C>T
NM_000232.5(SGCB):c.244-19G>C
NM_000232.5(SGCB):c.244-3C>A rs2109372117
NM_000232.5(SGCB):c.244-9C>G
NM_000232.5(SGCB):c.249A>C (p.Thr83=) rs565862702
NM_000232.5(SGCB):c.249A>G (p.Thr83=) rs565862702
NM_000232.5(SGCB):c.249A>T (p.Thr83=) rs565862702
NM_000232.5(SGCB):c.252T>C (p.Leu84=)
NM_000232.5(SGCB):c.253_254del (p.Val85fs) rs1553940274
NM_000232.5(SGCB):c.255dup (p.Ile86fs) rs2109372084
NM_000232.5(SGCB):c.258T>C (p.Ile86=) rs2109372068
NM_000232.5(SGCB):c.261G>A (p.Trp87Ter) rs2109372060
NM_000232.5(SGCB):c.264C>G (p.Ala88=)
NM_000232.5(SGCB):c.267G>A (p.Val89=) rs2109372042
NM_000232.5(SGCB):c.272G>C (p.Arg91Pro) rs104893869
NM_000232.5(SGCB):c.272G>T (p.Arg91Leu) rs104893869
NM_000232.5(SGCB):c.273C>T (p.Arg91=) rs776434241
NM_000232.5(SGCB):c.274A>G (p.Ile92Val)
NM_000232.5(SGCB):c.275T>C (p.Ile92Thr)
NM_000232.5(SGCB):c.278G>A (p.Gly93Glu)
NM_000232.5(SGCB):c.278G>C (p.Gly93Ala) rs1018529334
NM_000232.5(SGCB):c.282A>T (p.Pro94=)
NM_000232.5(SGCB):c.285T>C (p.Asn95=)
NM_000232.5(SGCB):c.288C>G (p.Gly96=) rs2109372010
NM_000232.5(SGCB):c.288C>T (p.Gly96=) rs2109372010
NM_000232.5(SGCB):c.299T>A (p.Met100Lys) rs104893871
NM_000232.5(SGCB):c.315T>C (p.Ser105=) rs2109371980
NM_000232.5(SGCB):c.318C>G (p.Gly106=) rs1335790481
NM_000232.5(SGCB):c.318C>T (p.Gly106=)
NM_000232.5(SGCB):c.319C>T (p.Leu107=)
NM_000232.5(SGCB):c.323T>G (p.Leu108Arg) rs104893870
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter) rs750773622
NM_000232.5(SGCB):c.333G>A (p.Lys111=)
NM_000232.5(SGCB):c.334C>T (p.Gln112Ter) rs1553940262
NM_000232.5(SGCB):c.339A>G (p.Val113=)
NM_000232.5(SGCB):c.34-13A>G
NM_000232.5(SGCB):c.34-150_243+150del
NM_000232.5(SGCB):c.34-15G>A
NM_000232.5(SGCB):c.34-18G>A
NM_000232.5(SGCB):c.34-1G>A rs1484409119
NM_000232.5(SGCB):c.34-20A>G
NM_000232.5(SGCB):c.34-3T>G rs794727241
NM_000232.5(SGCB):c.34-9C>A rs886059439
NM_000232.5(SGCB):c.343G>C (p.Asp115His) rs1560567700
NM_000232.5(SGCB):c.346A>G (p.Met116Val) rs752168132
NM_000232.5(SGCB):c.357C>T (p.Ile119=) rs2109371913
NM_000232.5(SGCB):c.358C>T (p.His120Tyr)
NM_000232.5(SGCB):c.360C>T (p.His120=)
NM_000232.5(SGCB):c.361C>A (p.Pro121Thr) rs764749125
NM_000232.5(SGCB):c.366_367del (p.Leu122_Tyr123insTer) rs1578126090
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser) rs398123263
NM_000232.5(SGCB):c.36_37delinsG (p.Ser13fs)
NM_000232.5(SGCB):c.372A>G (p.Lys124=)
NM_000232.5(SGCB):c.373A>T (p.Ser125Cys)
NM_000232.5(SGCB):c.373dup (p.Ser125fs) rs2109371877
NM_000232.5(SGCB):c.374del (p.Ser125fs)
NM_000232.5(SGCB):c.377C>T (p.Thr126Ile)
NM_000232.5(SGCB):c.377_384dup (p.Gly129delinsGlnTer) rs751427729
NM_000232.5(SGCB):c.378A>G (p.Thr126=)
NM_000232.5(SGCB):c.379G>C (p.Val127Leu)
NM_000232.5(SGCB):c.37del (p.Ser13fs)
NM_000232.5(SGCB):c.391C>T (p.Arg131Ter) rs1013015106
NM_000232.5(SGCB):c.396T>G (p.Asn132Lys)
NM_000232.5(SGCB):c.403T>C (p.Leu135=) rs1737198985
NM_000232.5(SGCB):c.404T>A (p.Leu135Ter)
NM_000232.5(SGCB):c.404T>G (p.Leu135Trp)
NM_000232.5(SGCB):c.405G>A (p.Leu135=) rs1655158646
NM_000232.5(SGCB):c.408C>T (p.Val136=) rs2109371822
NM_000232.5(SGCB):c.411C>T (p.Ile137=)
NM_000232.5(SGCB):c.413C>T (p.Thr138Ile)
NM_000232.5(SGCB):c.416G>A (p.Gly139Asp) rs1560567653
NM_000232.5(SGCB):c.417C>A (p.Gly139=)
NM_000232.5(SGCB):c.426G>A (p.Gln142=)
NM_000232.5(SGCB):c.429+12C>T
NM_000232.5(SGCB):c.429+15T>G
NM_000232.5(SGCB):c.429+17A>T
NM_000232.5(SGCB):c.429+18C>A rs2109371767
NM_000232.5(SGCB):c.429+2dup
NM_000232.5(SGCB):c.42C>T (p.Ser14=)
NM_000232.5(SGCB):c.430-10T>C rs1553940172
NM_000232.5(SGCB):c.430-13_430-12del
NM_000232.5(SGCB):c.430-13del
NM_000232.5(SGCB):c.430-16A>G
NM_000232.5(SGCB):c.430-17A>G
NM_000232.5(SGCB):c.430-2A>G
NM_000232.5(SGCB):c.430-4G>A
NM_000232.5(SGCB):c.430-5del rs762831481
NM_000232.5(SGCB):c.430-5dup rs762831481
NM_000232.5(SGCB):c.430-7T>C rs2109371163
NM_000232.5(SGCB):c.430-8T>C
NM_000232.5(SGCB):c.432T>G (p.Ile144Met)
NM_000232.5(SGCB):c.433del (p.Val145fs)
NM_000232.5(SGCB):c.434T>C (p.Val145Ala) rs1446053409
NM_000232.5(SGCB):c.44A>G (p.Asn15Ser) rs1560568898
NM_000232.5(SGCB):c.453A>G (p.Thr151=)
NM_000232.5(SGCB):c.456G>A (p.Lys152=) rs2109371116
NM_000232.5(SGCB):c.459C>T (p.Leu153=) rs1737178749
NM_000232.5(SGCB):c.45T>C (p.Asn15=)
NM_000232.5(SGCB):c.460A>G (p.Ser154Gly)
NM_000232.5(SGCB):c.460_482del (p.Ser154fs)
NM_000232.5(SGCB):c.466_467del (p.Glu156fs) rs1578125670
NM_000232.5(SGCB):c.474C>G (p.Asn158Lys) rs1412020365
NM_000232.5(SGCB):c.474C>T (p.Asn158=)
NM_000232.5(SGCB):c.475A>G (p.Lys159Glu) rs2109371081
NM_000232.5(SGCB):c.479C>T (p.Thr160Ile)
NM_000232.5(SGCB):c.483T>C (p.Ser161=) rs759737437
NM_000232.5(SGCB):c.491G>T (p.Ser164Ile)
NM_000232.5(SGCB):c.491_494delinsTTG (p.Ser164fs)
NM_000232.5(SGCB):c.494del (p.Asp165fs)
NM_000232.5(SGCB):c.504_505delinsAG (p.Met168_Gln169delinsIleGlu) rs2109371031
NM_000232.5(SGCB):c.518dup (p.Arg174fs)
NM_000232.5(SGCB):c.519G>C (p.Pro173=)
NM_000232.5(SGCB):c.51T>C (p.Pro17=) rs964563108
NM_000232.5(SGCB):c.520A>C (p.Arg174=)
NM_000232.5(SGCB):c.522G>A (p.Arg174=)
NM_000232.5(SGCB):c.524C>A (p.Thr175Asn)
NM_000232.5(SGCB):c.531T>C (p.Asn177=) rs2109371002
NM_000232.5(SGCB):c.532dup (p.Ile178fs)
NM_000232.5(SGCB):c.533T>C (p.Ile178Thr) rs943840432
NM_000232.5(SGCB):c.538T>C (p.Phe180Leu) rs536728645
NM_000232.5(SGCB):c.539del (p.Phe180fs) rs1737176330
NM_000232.5(SGCB):c.539dup (p.Ser181fs) rs1737176330
NM_000232.5(SGCB):c.541_551del (p.Phe180_Ser181insTer)
NM_000232.5(SGCB):c.543_547del (p.Ser181fs)
NM_000232.5(SGCB):c.544A>G (p.Thr182Ala)
NM_000232.5(SGCB):c.546A>G (p.Thr182=)
NM_000232.5(SGCB):c.551_552del (p.Asp183_Tyr184insTer) rs1057517051
NM_000232.5(SGCB):c.552T>G (p.Tyr184Ter) rs104893868
NM_000232.5(SGCB):c.558_568del (p.His187fs)
NM_000232.5(SGCB):c.55_56insGAGACAGT (p.Lys19fs)
NM_000232.5(SGCB):c.567dup (p.His190fs) rs1263020044
NM_000232.5(SGCB):c.569A>G (p.His190Arg)
NM_000232.5(SGCB):c.571T>C (p.Leu191=)
NM_000232.5(SGCB):c.572T>G (p.Leu191Trp)
NM_000232.5(SGCB):c.572del (p.Leu191fs) rs886042546
NM_000232.5(SGCB):c.573_574delinsCAA (p.Leu191fs)
NM_000232.5(SGCB):c.579T>C (p.Ser193=) rs2109370917
NM_000232.5(SGCB):c.579dup (p.Gly194fs) rs2109370922
NM_000232.5(SGCB):c.582A>C (p.Gly194=)
NM_000232.5(SGCB):c.582A>G (p.Gly194=)
NM_000232.5(SGCB):c.583dup (p.Val195fs)
NM_000232.5(SGCB):c.592T>G (p.Leu198Val)
NM_000232.5(SGCB):c.595_598del (p.Asn199fs) rs762114570
NM_000232.5(SGCB):c.597T>C (p.Asn199=) rs1737174455
NM_000232.5(SGCB):c.59A>C (p.Lys20Thr) rs2109376098
NM_000232.5(SGCB):c.602A>C (p.Gln201Pro) rs1560567321
NM_000232.5(SGCB):c.610T>C (p.Ser204Pro) rs886044156
NM_000232.5(SGCB):c.612T>C (p.Ser204=)
NM_000232.5(SGCB):c.613A>C (p.Thr205Pro)
NM_000232.5(SGCB):c.621+14G>T
NM_000232.5(SGCB):c.621+14del
NM_000232.5(SGCB):c.621+15C>T
NM_000232.5(SGCB):c.621+16T>C
NM_000232.5(SGCB):c.621+18del
NM_000232.5(SGCB):c.621+1G>A rs1264362642
NM_000232.5(SGCB):c.621+20T>A
NM_000232.5(SGCB):c.621+2T>C
NM_000232.5(SGCB):c.621+9T>C rs1578125562
NM_000232.5(SGCB):c.622-10A>G
NM_000232.5(SGCB):c.622-11del
NM_000232.5(SGCB):c.622-12T>G
NM_000232.5(SGCB):c.622-16T>C
NM_000232.5(SGCB):c.622-17G>C
NM_000232.5(SGCB):c.622-17G>T
NM_000232.5(SGCB):c.622-1G>C rs2109370093
NM_000232.5(SGCB):c.622-1G>T
NM_000232.5(SGCB):c.622-20C>A
NM_000232.5(SGCB):c.622-30_622-19del rs2109370138
NM_000232.5(SGCB):c.622_649delinsCAAAGCTATATATTTAAACTTTTATTTAAAT (p.Ile208_Asn217delinsGlnSerTyrIlePheLysLeuLeuPheLysTyr)
NM_000232.5(SGCB):c.626C>T (p.Thr209Ile) rs2109370086
NM_000232.5(SGCB):c.627C>T (p.Thr209=) rs1578125189
NM_000232.5(SGCB):c.630C>A (p.Ser210Arg)
NM_000232.5(SGCB):c.630C>G (p.Ser210Arg)
NM_000232.5(SGCB):c.630C>T (p.Ser210=) rs2109370066
NM_000232.5(SGCB):c.632A>G (p.Asn211Ser)
NM_000232.5(SGCB):c.636T>C (p.Ala212=)
NM_000232.5(SGCB):c.639C>T (p.Thr213=) rs535718115
NM_000232.5(SGCB):c.63C>T (p.Ser21=)
NM_000232.5(SGCB):c.644A>T (p.Asp215Val)
NM_000232.5(SGCB):c.64A>G (p.Met22Val)
NM_000232.5(SGCB):c.650del (p.Asn217fs) rs1553940079
NM_000232.5(SGCB):c.656_657del (p.Lys219fs) rs775458201
NM_000232.5(SGCB):c.657del (p.Val220fs)
NM_000232.5(SGCB):c.660T>C (p.Val220=) rs2109370022
NM_000232.5(SGCB):c.661_662insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGTTG (p.Val220_Asp221insGlyProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaLysLysLysLysLysLysLysLysVal)
NM_000232.5(SGCB):c.666G>A (p.Gly222=)
NM_000232.5(SGCB):c.675T>C (p.Ile225=)
NM_000232.5(SGCB):c.678G>A (p.Val226=) rs2109370000
NM_000232.5(SGCB):c.681T>A (p.Arg227=)
NM_000232.5(SGCB):c.683G>A (p.Gly228Glu) rs1737147925
NM_000232.5(SGCB):c.690A>C (p.Glu230Asp)
NM_000232.5(SGCB):c.691G>A (p.Gly231Ser)
NM_000232.5(SGCB):c.698T>C (p.Phe233Ser) rs1578125133
NM_000232.5(SGCB):c.699_702del (p.Phe233fs) rs1057516515
NM_000232.5(SGCB):c.703dup (p.Met235fs)
NM_000232.5(SGCB):c.707G>A (p.Gly236Asp) rs1553940073
NM_000232.5(SGCB):c.708_709insTTTTCATTATGGGC (p.Lys237fs)
NM_000232.5(SGCB):c.718G>A (p.Glu240Lys)
NM_000232.5(SGCB):c.725A>C (p.His242Pro) rs1553940064
NM_000232.5(SGCB):c.727A>G (p.Met243Val)
NM_000232.5(SGCB):c.729G>C (p.Met243Ile) rs2109369930
NM_000232.5(SGCB):c.734dup (p.Gly245_Asn246insTer)
NM_000232.5(SGCB):c.735T>C (p.Gly245=)
NM_000232.5(SGCB):c.735_736del (p.Asn246fs) rs2109369924
NM_000232.5(SGCB):c.753+10_753+12del rs138604476
NM_000232.5(SGCB):c.753+19G>A
NM_000232.5(SGCB):c.753+1G>A
NM_000232.5(SGCB):c.753+20C>T
NM_000232.5(SGCB):c.753+5G>A rs936193061
NM_000232.5(SGCB):c.753+7A>G rs2109369879
NM_000232.5(SGCB):c.753+7A>T rs2109369879
NM_000232.5(SGCB):c.754-13A>C
NM_000232.5(SGCB):c.754-14T>A
NM_000232.5(SGCB):c.754-7C>T
NM_000232.5(SGCB):c.754-8C>T rs2110209677
NM_000232.5(SGCB):c.758A>G (p.Asn253Ser) rs886044225
NM_000232.5(SGCB):c.75G>A (p.Lys25=) rs2109376069
NM_000232.5(SGCB):c.75_76insTCGT (p.Ala26fs)
NM_000232.5(SGCB):c.765C>T (p.Ile255=)
NM_000232.5(SGCB):c.768C>G (p.Ile256Met)
NM_000232.5(SGCB):c.771A>C (p.Leu257=) rs2110209659
NM_000232.5(SGCB):c.777A>T (p.Gly259=) rs758559559
NM_000232.5(SGCB):c.780T>C (p.Ser260=)
NM_000232.5(SGCB):c.783G>C (p.Val261=)
NM_000232.5(SGCB):c.78T>C (p.Ala26=)
NM_000232.5(SGCB):c.797C>T (p.Thr266Ile)
NM_000232.5(SGCB):c.798C>A (p.Thr266=) rs182784793
NM_000232.5(SGCB):c.800G>T (p.Arg267Leu) rs114778658
NM_000232.5(SGCB):c.804A>C (p.Leu268=) rs1737023796
NM_000232.5(SGCB):c.813C>T (p.Ser271=) rs2110209615
NM_000232.5(SGCB):c.819T>G (p.Ser273Arg)
NM_000232.5(SGCB):c.821G>A (p.Gly274Glu) rs2110209607
NM_000232.5(SGCB):c.827A>T (p.Gln276Leu) rs1737022947
NM_000232.5(SGCB):c.829T>C (p.Leu277=) rs745818288
NM_000232.5(SGCB):c.82G>T (p.Glu28Ter) rs771814273
NM_000232.5(SGCB):c.82_86del (p.Glu28fs) rs1553940687
NM_000232.5(SGCB):c.846G>C (p.Trp282Cys)
NM_000232.5(SGCB):c.857del (p.Lys286fs) rs1553939681
NM_000232.5(SGCB):c.858G>A (p.Lys286=) rs2110209580
NM_000232.5(SGCB):c.859del (p.Leu287fs) rs1553939675
NM_000232.5(SGCB):c.85dup (p.Arg29fs) rs2109376054
NM_000232.5(SGCB):c.863G>T (p.Cys288Phe)
NM_000232.5(SGCB):c.87A>G (p.Arg29=)
NM_000232.5(SGCB):c.87_89del (p.Arg30del) rs780654411
NM_000232.5(SGCB):c.881C>T (p.Thr294Met)
NM_000232.5(SGCB):c.882G>C (p.Thr294=) rs572922347
NM_000232.5(SGCB):c.885C>G (p.Leu295=)
NM_000232.5(SGCB):c.885C>T (p.Leu295=)
NM_000232.5(SGCB):c.88A>C (p.Arg30=) rs2109376040
NM_000232.5(SGCB):c.891G>A (p.Lys297=)
NM_000232.5(SGCB):c.892G>A (p.Val298Met) rs1560565822
NM_000232.5(SGCB):c.899T>G (p.Val300Gly)
NM_000232.5(SGCB):c.901A>G (p.Thr301Ala) rs1578123128
NM_000232.5(SGCB):c.903C>T (p.Thr301=)
NM_000232.5(SGCB):c.906C>T (p.Ser302=) rs1737020220
NM_000232.5(SGCB):c.908A>G (p.Gln303Arg)
NM_000232.5(SGCB):c.90G>A (p.Arg30=) rs11541942
NM_000232.5(SGCB):c.919_921del (p.Cys307del)
NM_000232.5(SGCB):c.921C>T (p.Cys307=)
NM_000232.5(SGCB):c.929C>T (p.Ser310Leu) rs779083146
NM_000232.5(SGCB):c.930A>C (p.Ser310=) rs145108543
NM_000232.5(SGCB):c.930A>G (p.Ser310=) rs145108543
NM_000232.5(SGCB):c.936C>T (p.Asn312=) rs1184617433
NM_000232.5(SGCB):c.945A>G (p.Gly315=) rs2110209464
NM_000232.5(SGCB):c.947A>G (p.Asn316Ser)
NM_000232.5(SGCB):c.954T>C (p.His318=)
NM_000232.5(SGCB):c.957A>G (p.Ter319=)
NM_000232.5(SGCB):c.96C>A (p.Val32=) rs2109376016
NM_000232.5:c.74_283del

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.