ClinVar Miner

List of variants studied for autosomal recessive limb-girdle muscular dystrophy type 2E by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 423
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.31C>G (p.Gln11Glu) rs752492870 0.00023
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000232.5(SGCB):c.18G>A (p.Ala6=) rs998759536 0.00014
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.33+10T>C rs1040348203 0.00011
NM_000232.5(SGCB):c.31C>T (p.Gln11Ter) rs752492870 0.00007
NM_000232.5(SGCB):c.105G>A (p.Glu35=) rs1214745536 0.00006
NM_000232.5(SGCB):c.29A>G (p.Glu10Gly) rs1452778513 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.1_2del (p.Met1fs) rs886042503 0.00004
NM_000232.5(SGCB):c.282A>G (p.Pro94=) rs746957769 0.00004
NM_000232.5(SGCB):c.33+16C>A rs765157791 0.00004
NM_000232.5(SGCB):c.369T>C (p.Tyr123=) rs371706268 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.27A>C (p.Ala9=) rs1170618819 0.00003
NM_000232.5(SGCB):c.429+13A>G rs759134929 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.14C>A (p.Ala5Glu) rs886158091 0.00002
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.1A>G (p.Met1Val) rs398123262 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.33+1G>C rs1553940957 0.00001
NM_000232.5(SGCB):c.33+8A>G rs1476524603 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.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.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.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.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
NM_000232.5(SGCB):c.9A>G (p.Ala3=) rs886043810 0.00001
NC_000004.11:g.(?_52890103)_(52904445_?)dup
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.(?_52023947)_(52038269_?)del
NC_000004.12:g.(?_52033421)_(52033650_?)del
NC_000004.12:g.(?_52038207)_(52038279_?)del
NM_000232.5(SGCB):c.-10_13del (p.Met1fs) rs2109380910
NM_000232.5(SGCB):c.-10_19dup (p.Ala7fs)
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs) rs1553940963
NM_000232.5(SGCB):c.-12_23dup (p.Ala9fs)
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs) rs1207685911
NM_000232.5(SGCB):c.-15_8dup (p.Ala5fs)
NM_000232.5(SGCB):c.-18_8dup (p.Ala6fs) rs2109380938
NM_000232.5(SGCB):c.-8_8dup (p.Ala4fs)
NM_000232.5(SGCB):c.10G>C (p.Ala4Pro)
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.120T>C (p.Phe40=)
NM_000232.5(SGCB):c.126T>C (p.Ala42=)
NM_000232.5(SGCB):c.12G>A (p.Ala4=)
NM_000232.5(SGCB):c.12G>C (p.Ala4=) rs758245081
NM_000232.5(SGCB):c.12G>T (p.Ala4=) rs758245081
NM_000232.5(SGCB):c.12GGC[5] (p.Ala9dup) rs768838951
NM_000232.5(SGCB):c.12GGC[6] (p.Ala8_Ala9dup) rs768838951
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.14C>T (p.Ala5Val) rs886158091
NM_000232.5(SGCB):c.150T>C (p.Asp50=) rs765583649
NM_000232.5(SGCB):c.156C>T (p.Leu52=) rs1553940675
NM_000232.5(SGCB):c.159C>T (p.His53=)
NM_000232.5(SGCB):c.15G>A (p.Ala5=)
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.17C>T (p.Ala6Val) rs1414363052
NM_000232.5(SGCB):c.195C>T (p.Ala65=)
NM_000232.5(SGCB):c.19G>A (p.Ala7Thr)
NM_000232.5(SGCB):c.21G>A (p.Ala7=)
NM_000232.5(SGCB):c.222C>T (p.Ile74=)
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+17A>G
NM_000232.5(SGCB):c.243+2T>G rs1553940661
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.24T>C (p.Ala8=) rs2109380841
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.26C>T (p.Ala9Val)
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.27A>G (p.Ala9=)
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.28G>T (p.Glu10Ter) rs1448040082
NM_000232.5(SGCB):c.299T>A (p.Met100Lys) rs104893871
NM_000232.5(SGCB):c.2T>C (p.Met1Thr) rs1737457235
NM_000232.5(SGCB):c.30del (p.Glu10fs) rs2109380824
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.325C>T (p.Arg109Ter) rs750773622
NM_000232.5(SGCB):c.32A>G (p.Gln11Arg) rs2109380807
NM_000232.5(SGCB):c.32dup (p.Gln12fs) rs796065319
NM_000232.5(SGCB):c.33+11A>G
NM_000232.5(SGCB):c.33+12C>A
NM_000232.5(SGCB):c.33+12C>T
NM_000232.5(SGCB):c.33+13C>A
NM_000232.5(SGCB):c.33+13C>G
NM_000232.5(SGCB):c.33+13C>T
NM_000232.5(SGCB):c.33+15C>T
NM_000232.5(SGCB):c.33+16C>T rs765157791
NM_000232.5(SGCB):c.33+17G>C
NM_000232.5(SGCB):c.33+18C>T
NM_000232.5(SGCB):c.33+2T>A rs2109380796
NM_000232.5(SGCB):c.33+3C>G
NM_000232.5(SGCB):c.33+4T>C
NM_000232.5(SGCB):c.33+7G>A rs2109380783
NM_000232.5(SGCB):c.33+9G>C rs886043257
NM_000232.5(SGCB):c.333G>A (p.Lys111=)
NM_000232.5(SGCB):c.339A>G (p.Val113=)
NM_000232.5(SGCB):c.34-13A>G
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.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.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.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.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.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.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.483T>C (p.Ser161=) rs759737437
NM_000232.5(SGCB):c.491G>T (p.Ser164Ile)
NM_000232.5(SGCB):c.494del (p.Asp165fs)
NM_000232.5(SGCB):c.504_505delinsAG (p.Met168_Gln169delinsIleGlu) rs2109371031
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.533T>C (p.Ile178Thr) rs943840432
NM_000232.5(SGCB):c.538T>C (p.Phe180Leu) rs536728645
NM_000232.5(SGCB):c.539dup (p.Ser181fs) rs1737176330
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.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.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.5C>T (p.Ala2Val)
NM_000232.5(SGCB):c.602A>C (p.Gln201Pro) rs1560567321
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+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>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>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.64A>G (p.Met22Val)
NM_000232.5(SGCB):c.656_657del (p.Lys219fs) rs775458201
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.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.6G>A (p.Ala2=)
NM_000232.5(SGCB):c.6G>C (p.Ala2=)
NM_000232.5(SGCB):c.6G>T (p.Ala2=)
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.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+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.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.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.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.8C>A (p.Ala3Glu) rs1578130059
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.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.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(SGCB):c.9A>T (p.Ala3=)
NM_000232.5(SGCB):c.9_14dup (p.Ala8_Ala9dup) rs886044103
NM_000232.5(SGCB):c.9_17dup (p.Ala7_Ala9dup) rs1410190129
NM_000232.5(SGCB):c.9_23dup (p.Ala5_Ala9dup) rs781364428

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