ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 429
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HGVS dbSNP gnomAD frequency
NM_000337.6(SGCD):c.84T>C (p.Tyr28=) rs1801193 0.39558
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_000337.6(SGCD):c.700-19T>C rs80086857 0.02231
NM_000337.6(SGCD):c.507G>A (p.Ala169=) rs10071079 0.00680
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00640
NM_000337.6(SGCD):c.213G>A (p.Arg71=) rs74846539 0.00115
NM_000337.6(SGCD):c.144G>C (p.Val48=) rs372152495 0.00106
NM_000337.6(SGCD):c.543T>G (p.Pro181=) rs200451694 0.00041
NM_000337.6(SGCD):c.510G>A (p.Glu170=) rs368838376 0.00029
NM_000337.6(SGCD):c.193-17T>G rs201079829 0.00027
NM_000337.6(SGCD):c.3+3G>C rs573109924 0.00023
NM_000337.6(SGCD):c.494G>A (p.Arg165Gln) rs727503423 0.00020
NM_000337.6(SGCD):c.699+18C>G rs180898690 0.00019
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg) rs397516338 0.00019
NM_000337.6(SGCD):c.817C>T (p.Leu273=) rs375029639 0.00016
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00016
NM_000337.6(SGCD):c.123C>G (p.Leu41=) rs200670993 0.00015
NM_000337.6(SGCD):c.3+20G>A rs187786098 0.00013
NM_000337.6(SGCD):c.755C>T (p.Thr252Met) rs199520526 0.00013
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala) rs121909298 0.00012
NM_000337.6(SGCD):c.191T>C (p.Ile64Thr) rs376780156 0.00011
NM_000337.6(SGCD):c.3+11C>T rs374790317 0.00010
NM_000337.6(SGCD):c.394G>A (p.Val132Ile) rs367819390 0.00010
NM_000337.6(SGCD):c.793G>A (p.Val265Ile) rs772185467 0.00010
NM_000337.6(SGCD):c.160A>G (p.Ile54Val) rs200671745 0.00009
NM_000337.6(SGCD):c.717G>A (p.Ala239=) rs145430692 0.00009
NM_000337.6(SGCD):c.566A>G (p.Lys189Arg) rs538002169 0.00008
NM_000337.6(SGCD):c.402T>C (p.Ala134=) rs190935424 0.00007
NM_000337.6(SGCD):c.295-20C>A rs144250417 0.00006
NM_000337.6(SGCD):c.69C>T (p.Tyr23=) rs397517923 0.00006
NM_000337.6(SGCD):c.792C>T (p.Cys264=) rs367616773 0.00006
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp) rs549319429 0.00004
NM_000337.6(SGCD):c.292C>T (p.Pro98Ser) rs1437006739 0.00004
NM_000337.6(SGCD):c.295-10C>G rs1334538970 0.00004
NM_000337.6(SGCD):c.393C>T (p.Ala131=) rs397517922 0.00004
NM_000337.6(SGCD):c.4-12C>T rs727504580 0.00004
NM_000337.6(SGCD):c.511G>A (p.Gly171Ser) rs764237334 0.00004
NM_000337.6(SGCD):c.716C>T (p.Ala239Val) rs377153196 0.00004
NM_000337.6(SGCD):c.756G>A (p.Thr252=) rs756467431 0.00004
NM_000337.6(SGCD):c.294+15A>C rs377470284 0.00003
NM_000337.6(SGCD):c.3+14G>A rs538229806 0.00003
NM_000337.6(SGCD):c.458A>G (p.Asp153Gly) rs752000538 0.00003
NM_000337.6(SGCD):c.593G>A (p.Arg198Gln) rs750459196 0.00003
NM_000337.6(SGCD):c.697G>A (p.Glu233Lys) rs768979513 0.00003
NM_000337.6(SGCD):c.731C>T (p.Pro244Leu) rs375159661 0.00003
NM_000337.6(SGCD):c.767C>T (p.Thr256Met) rs578056399 0.00003
NM_000337.6(SGCD):c.783C>T (p.Phe261=) rs768741617 0.00003
NM_000337.6(SGCD):c.798C>T (p.Cys266=) rs371850230 0.00003
NM_000337.6(SGCD):c.193-7A>G rs747018859 0.00002
NM_000337.6(SGCD):c.1A>G (p.Met1Val) rs756367674 0.00002
NM_000337.6(SGCD):c.294+3A>G rs766462865 0.00002
NM_000337.6(SGCD):c.298A>C (p.Asn100His) rs1436273126 0.00002
NM_000337.6(SGCD):c.3+2T>A rs753979573 0.00002
NM_000337.6(SGCD):c.32G>A (p.Arg11Gln) rs752548592 0.00002
NM_000337.6(SGCD):c.401C>T (p.Ala134Val) rs776098396 0.00002
NM_000337.6(SGCD):c.575+6C>T rs886044432 0.00002
NM_000337.6(SGCD):c.630C>T (p.Ile210=) rs763051644 0.00002
NM_000337.6(SGCD):c.749C>T (p.Ser250Phe) rs781628137 0.00002
NM_000337.6(SGCD):c.771G>A (p.Arg257=) rs774579663 0.00002
NM_000337.6(SGCD):c.786G>A (p.Glu262=) rs1197695649 0.00002
NM_000337.6(SGCD):c.91C>T (p.Arg31Trp) rs202223676 0.00002
NM_000337.6(SGCD):c.98G>A (p.Arg33Gln) rs1488623227 0.00002
NM_000337.6(SGCD):c.10C>T (p.Gln4Ter) rs1768838504 0.00001
NM_000337.6(SGCD):c.153C>T (p.Ala51=) rs1021837057 0.00001
NM_000337.6(SGCD):c.190A>G (p.Ile64Val) rs753808210 0.00001
NM_000337.6(SGCD):c.193-12G>T rs727503421 0.00001
NM_000337.6(SGCD):c.193-8T>C rs775726683 0.00001
NM_000337.6(SGCD):c.193-9C>G rs1479077458 0.00001
NM_000337.6(SGCD):c.194A>G (p.Asp65Gly) rs769883857 0.00001
NM_000337.6(SGCD):c.19T>C (p.Tyr7His) rs1561633494 0.00001
NM_000337.6(SGCD):c.237A>G (p.Leu79=) rs759198194 0.00001
NM_000337.6(SGCD):c.249T>G (p.Ser83=) rs1348759871 0.00001
NM_000337.6(SGCD):c.258A>G (p.Leu86=) rs755568661 0.00001
NM_000337.6(SGCD):c.270C>T (p.Tyr90=) rs749273088 0.00001
NM_000337.6(SGCD):c.288C>A (p.Ser96=) rs746179885 0.00001
NM_000337.6(SGCD):c.294+18G>A rs774199047 0.00001
NM_000337.6(SGCD):c.295-4G>T rs1397739383 0.00001
NM_000337.6(SGCD):c.296G>A (p.Gly99Asp) rs955284985 0.00001
NM_000337.6(SGCD):c.31C>T (p.Arg11Trp) rs566181541 0.00001
NM_000337.6(SGCD):c.340A>G (p.Ile114Val) rs760206240 0.00001
NM_000337.6(SGCD):c.352C>A (p.Gln118Lys) rs748107425 0.00001
NM_000337.6(SGCD):c.354G>T (p.Gln118His) rs770930747 0.00001
NM_000337.6(SGCD):c.359A>C (p.Lys120Thr) rs1385323214 0.00001
NM_000337.6(SGCD):c.35G>A (p.Ser12Asn) rs1449665448 0.00001
NM_000337.6(SGCD):c.382+11G>A rs1760629317 0.00001
NM_000337.6(SGCD):c.387A>G (p.Pro129=) rs80066854 0.00001
NM_000337.6(SGCD):c.4-13T>A rs761148697 0.00001
NM_000337.6(SGCD):c.4-1G>A rs1554094927 0.00001
NM_000337.6(SGCD):c.4-7A>G rs1161530606 0.00001
NM_000337.6(SGCD):c.421G>T (p.Val141Leu) rs1382070084 0.00001
NM_000337.6(SGCD):c.434C>G (p.Ser145Cys) rs1324593212 0.00001
NM_000337.6(SGCD):c.447C>G (p.Leu149=) rs1257378159 0.00001
NM_000337.6(SGCD):c.45T>A (p.Pro15=) rs727505092 0.00001
NM_000337.6(SGCD):c.461A>G (p.Asn154Ser) rs759767804 0.00001
NM_000337.6(SGCD):c.475G>A (p.Val159Ile) rs370327314 0.00001
NM_000337.6(SGCD):c.493C>T (p.Arg165Ter) rs121909295 0.00001
NM_000337.6(SGCD):c.503-11T>G rs372967785 0.00001
NM_000337.6(SGCD):c.506C>T (p.Ala169Val) rs876658001 0.00001
NM_000337.6(SGCD):c.532A>G (p.Ile178Val) rs1200525320 0.00001
NM_000337.6(SGCD):c.547G>A (p.Val183Ile) rs751421543 0.00001
NM_000337.6(SGCD):c.54G>A (p.Val18=) rs756970013 0.00001
NM_000337.6(SGCD):c.559C>T (p.Pro187Ser) rs769250018 0.00001
NM_000337.6(SGCD):c.576-20C>T rs764323398 0.00001
NM_000337.6(SGCD):c.577T>C (p.Leu193=) rs776813977 0.00001
NM_000337.6(SGCD):c.592C>T (p.Arg198Trp) rs561825515 0.00001
NM_000337.6(SGCD):c.632A>G (p.Asn211Ser) rs794727901 0.00001
NM_000337.6(SGCD):c.642T>C (p.Ala214=) rs778303434 0.00001
NM_000337.6(SGCD):c.659C>T (p.Thr220Ile) rs1471128348 0.00001
NM_000337.6(SGCD):c.699+3G>A rs1757394496 0.00001
NM_000337.6(SGCD):c.715G>A (p.Ala239Thr) rs373871327 0.00001
NM_000337.6(SGCD):c.761C>A (p.Thr254Lys) rs372607729 0.00001
NM_000337.6(SGCD):c.768G>A (p.Thr256=) rs376141942 0.00001
NM_000337.6(SGCD):c.799G>A (p.Ala267Thr) rs772799792 0.00001
NM_000337.6(SGCD):c.821C>T (p.Ser274Phe) rs768051118 0.00001
NM_000337.6(SGCD):c.99A>T (p.Arg33=) rs745487169 0.00001
NC_000005.10:g.(?_156329567)_(156344687_?)del
NC_000005.10:g.(?_156757561)_(156759410_?)del
NC_000005.9:g.(?_155338082)_(156186411_?)del
NC_000005.9:g.(?_155756567)_(155756609_?)dup
NC_000005.9:g.(?_155756587)_(155756609_?)del
NC_000005.9:g.(?_155756587)_(156074566_?)del
NC_000005.9:g.(?_155756587)_(156184735_?)del
NC_000005.9:g.(?_155756587)_(156186401_?)dup
NC_000005.9:g.(?_155935601)_(156074556_?)del
NC_000005.9:g.(?_156016221)_(156022081_?)dup
NC_000005.9:g.(?_156074454)_(156074566_?)del
NC_000005.9:g.(?_156074454)_(156074566_?)dup
NC_000005.9:g.(?_156184572)_(156184735_?)del
NC_000005.9:g.(?_156184572)_(156186401_?)dup
NM_000337.6(SGCD):c.101G>A (p.Cys34Tyr) rs757994622
NM_000337.6(SGCD):c.104T>C (p.Leu35Pro) rs1014551583
NM_000337.6(SGCD):c.105G>C (p.Leu35=) rs193922392
NM_000337.6(SGCD):c.105G>T (p.Leu35=) rs193922392
NM_000337.6(SGCD):c.108T>C (p.Tyr36=)
NM_000337.6(SGCD):c.112T>C (p.Phe38Leu)
NM_000337.6(SGCD):c.115G>C (p.Val39Leu)
NM_000337.6(SGCD):c.116T>C (p.Val39Ala) rs794729164
NM_000337.6(SGCD):c.118C>T (p.Leu40=)
NM_000337.6(SGCD):c.121C>A (p.Leu41Ile) rs769047953
NM_000337.6(SGCD):c.127A>T (p.Met43Leu) rs2127716663
NM_000337.6(SGCD):c.130A>G (p.Ile44Val)
NM_000337.6(SGCD):c.131T>G (p.Ile44Ser) rs1419851820
NM_000337.6(SGCD):c.133_172dup (p.Lys58fs)
NM_000337.6(SGCD):c.147C>T (p.Asn49=) rs2127716692
NM_000337.6(SGCD):c.155T>C (p.Met52Thr) rs2127716699
NM_000337.6(SGCD):c.159C>T (p.Thr53=)
NM_000337.6(SGCD):c.15G>A (p.Glu5=)
NM_000337.6(SGCD):c.171C>G (p.Leu57=)
NM_000337.6(SGCD):c.172A>T (p.Lys58Ter)
NM_000337.6(SGCD):c.175G>T (p.Val59Phe) rs1274415049
NM_000337.6(SGCD):c.186C>T (p.Phe62=)
NM_000337.6(SGCD):c.189A>G (p.Thr63=)
NM_000337.6(SGCD):c.192+11C>T
NM_000337.6(SGCD):c.192+12C>T
NM_000337.6(SGCD):c.192+13A>G
NM_000337.6(SGCD):c.192+14T>A
NM_000337.6(SGCD):c.192+14T>C
NM_000337.6(SGCD):c.192+18G>T
NM_000337.6(SGCD):c.192+19G>A
NM_000337.6(SGCD):c.192+1G>A rs1267810339
NM_000337.6(SGCD):c.192+20T>G
NM_000337.6(SGCD):c.193-12G>A
NM_000337.6(SGCD):c.193-12_193-10del
NM_000337.6(SGCD):c.193-16C>G
NM_000337.6(SGCD):c.193-18C>G
NM_000337.6(SGCD):c.193-18C>T
NM_000337.6(SGCD):c.193-20A>G
NM_000337.6(SGCD):c.193-20A>T rs778298187
NM_000337.6(SGCD):c.193-7_193-4dup rs2127875278
NM_000337.6(SGCD):c.195T>C (p.Asp65=)
NM_000337.6(SGCD):c.197G>C (p.Gly66Ala) rs1581095772
NM_000337.6(SGCD):c.204A>G (p.Gly68=)
NM_000337.6(SGCD):c.219A>G (p.Thr73=)
NM_000337.6(SGCD):c.231A>G (p.Leu77=)
NM_000337.6(SGCD):c.234G>A (p.Lys78=)
NM_000337.6(SGCD):c.240A>G (p.Glu80=)
NM_000337.6(SGCD):c.242G>C (p.Gly81Ala) rs2127875419
NM_000337.6(SGCD):c.243A>G (p.Gly81=)
NM_000337.6(SGCD):c.248_249del (p.Asp82_Ser83insTer)
NM_000337.6(SGCD):c.255C>T (p.Phe85=)
NM_000337.6(SGCD):c.258dup (p.Gln87fs)
NM_000337.6(SGCD):c.25C>T (p.His9Tyr) rs1320640424
NM_000337.6(SGCD):c.262C>T (p.Pro88Ser) rs1489575164
NM_000337.6(SGCD):c.265C>G (p.Leu89Val) rs754342073
NM_000337.6(SGCD):c.267C>G (p.Leu89=)
NM_000337.6(SGCD):c.268T>A (p.Tyr90Asn) rs786205286
NM_000337.6(SGCD):c.271G>A (p.Ala91Thr)
NM_000337.6(SGCD):c.274A>C (p.Lys92Gln) rs1159364901
NM_000337.6(SGCD):c.282C>A (p.Ile94=)
NM_000337.6(SGCD):c.285G>C (p.Gln95His) rs1421460814
NM_000337.6(SGCD):c.288C>T (p.Ser96=)
NM_000337.6(SGCD):c.289C>A (p.Arg97=)
NM_000337.6(SGCD):c.289C>T (p.Arg97Ter) rs758700138
NM_000337.6(SGCD):c.28C>T (p.His10Tyr) rs2127716448
NM_000337.6(SGCD):c.294+16G>C
NM_000337.6(SGCD):c.294+1G>A rs727503422
NM_000337.6(SGCD):c.294+20A>G rs1756811866
NM_000337.6(SGCD):c.295-14T>C
NM_000337.6(SGCD):c.295-15A>G
NM_000337.6(SGCD):c.295-15_295-13del
NM_000337.6(SGCD):c.295-18C>T
NM_000337.6(SGCD):c.295-20C>G rs144250417
NM_000337.6(SGCD):c.295-20_295-17del
NM_000337.6(SGCD):c.296G>T (p.Gly99Val) rs955284985
NM_000337.6(SGCD):c.298A>T (p.Asn100Tyr)
NM_000337.6(SGCD):c.3+11C>A
NM_000337.6(SGCD):c.3+13C>G
NM_000337.6(SGCD):c.3+13C>T
NM_000337.6(SGCD):c.3+14G>C rs538229806
NM_000337.6(SGCD):c.3+14G>T rs538229806
NM_000337.6(SGCD):c.3+15G>A
NM_000337.6(SGCD):c.3+16del
NM_000337.6(SGCD):c.3+17A>G
NM_000337.6(SGCD):c.3+19C>A
NM_000337.6(SGCD):c.3+19C>G rs182715924
NM_000337.6(SGCD):c.3+19C>T rs182715924
NM_000337.6(SGCD):c.3+1G>T rs777787493
NM_000337.6(SGCD):c.3+20G>T
NM_000337.6(SGCD):c.3+7A>G rs1561622931
NM_000337.6(SGCD):c.300T>C (p.Asn100=)
NM_000337.6(SGCD):c.304C>T (p.Leu102=) rs868328526
NM_000337.6(SGCD):c.310T>C (p.Phe104Leu) rs989244785
NM_000337.6(SGCD):c.313_315del (p.Lys105del) rs1760622721
NM_000337.6(SGCD):c.315G>C (p.Lys105Asn) rs1760622985
NM_000337.6(SGCD):c.333A>C (p.Thr111=) rs886042290
NM_000337.6(SGCD):c.337A>C (p.Asn113His) rs1760624404
NM_000337.6(SGCD):c.33G>A (p.Arg11=)
NM_000337.6(SGCD):c.351C>T (p.Asp117=)
NM_000337.6(SGCD):c.354G>C (p.Gln118His) rs770930747
NM_000337.6(SGCD):c.354_358del (p.Thr119fs) rs1760626889
NM_000337.6(SGCD):c.356C>G (p.Thr119Ser) rs1581216333
NM_000337.6(SGCD):c.356C>T (p.Thr119Ile) rs1581216333
NM_000337.6(SGCD):c.357T>C (p.Thr119=) rs886044132
NM_000337.6(SGCD):c.357T>G (p.Thr119=)
NM_000337.6(SGCD):c.358A>G (p.Lys120Glu) rs956992133
NM_000337.6(SGCD):c.363G>T (p.Val121=) rs1327634775
NM_000337.6(SGCD):c.364C>T (p.Leu122=)
NM_000337.6(SGCD):c.372G>A (p.Gln124=)
NM_000337.6(SGCD):c.373C>T (p.Leu125Phe)
NM_000337.6(SGCD):c.376A>G (p.Ile126Val)
NM_000337.6(SGCD):c.382+12G>A
NM_000337.6(SGCD):c.382+12del
NM_000337.6(SGCD):c.382+16del
NM_000337.6(SGCD):c.382+2T>C
NM_000337.6(SGCD):c.382+4A>G
NM_000337.6(SGCD):c.383-10T>C
NM_000337.6(SGCD):c.383-11A>C
NM_000337.6(SGCD):c.383-11A>G
NM_000337.6(SGCD):c.383-11A>T rs727504584
NM_000337.6(SGCD):c.383-11_383-4dup
NM_000337.6(SGCD):c.383-12_383-11insCCTCTCT
NM_000337.6(SGCD):c.383-15C>A
NM_000337.6(SGCD):c.383-15C>G
NM_000337.6(SGCD):c.383-19A>C
NM_000337.6(SGCD):c.383-19A>G
NM_000337.6(SGCD):c.383-19_383-16del
NM_000337.6(SGCD):c.383-20T>C
NM_000337.6(SGCD):c.383-7C>T rs1485320081
NM_000337.6(SGCD):c.383-9A>C
NM_000337.6(SGCD):c.383-9A>G
NM_000337.6(SGCD):c.383-9A>T rs995515938
NM_000337.6(SGCD):c.383-9_383-8del
NM_000337.6(SGCD):c.383G>A (p.Gly128Asp)
NM_000337.6(SGCD):c.384T>C (p.Gly128=)
NM_000337.6(SGCD):c.38C>T (p.Thr13Ile) rs1768840932
NM_000337.6(SGCD):c.390A>G (p.Lys130=)
NM_000337.6(SGCD):c.390del (p.Ala131fs) rs397517921
NM_000337.6(SGCD):c.397G>C (p.Glu133Gln) rs746717495
NM_000337.6(SGCD):c.4-11G>A
NM_000337.6(SGCD):c.4-11G>T rs754124727
NM_000337.6(SGCD):c.4-14C>T
NM_000337.6(SGCD):c.4-1G>C
NM_000337.6(SGCD):c.4-1G>T rs1554094927
NM_000337.6(SGCD):c.405T>C (p.Tyr135=)
NM_000337.6(SGCD):c.40A>G (p.Met14Val)
NM_000337.6(SGCD):c.413A>G (p.Lys138Arg)
NM_000337.6(SGCD):c.413A>T (p.Lys138Ile) rs1760869370
NM_000337.6(SGCD):c.414A>G (p.Lys138=)
NM_000337.6(SGCD):c.414A>T (p.Lys138Asn) rs1760869467
NM_000337.6(SGCD):c.414dup (p.Phe139fs)
NM_000337.6(SGCD):c.415T>A (p.Phe139Ile) rs886044160
NM_000337.6(SGCD):c.41T>C (p.Met14Thr)
NM_000337.6(SGCD):c.435T>G (p.Ser145=)
NM_000337.6(SGCD):c.437G>T (p.Gly146Val) rs1438925313
NM_000337.6(SGCD):c.441dup (p.Leu148fs)
NM_000337.6(SGCD):c.446T>C (p.Leu149Pro)
NM_000337.6(SGCD):c.447C>T (p.Leu149=)
NM_000337.6(SGCD):c.452C>T (p.Ser151Phe) rs766924806
NM_000337.6(SGCD):c.465T>C (p.Asn155=)
NM_000337.6(SGCD):c.466G>T (p.Glu156Ter) rs2113389536
NM_000337.6(SGCD):c.467A>G (p.Glu156Gly)
NM_000337.6(SGCD):c.468A>G (p.Glu156=)
NM_000337.6(SGCD):c.469G>A (p.Val157Met) rs2113389554
NM_000337.6(SGCD):c.471G>A (p.Val157=)
NM_000337.6(SGCD):c.477A>G (p.Val159=)
NM_000337.6(SGCD):c.47G>A (p.Gly16Asp)
NM_000337.6(SGCD):c.481G>A (p.Ala161Thr) rs886043902
NM_000337.6(SGCD):c.481_485dup (p.Arg163fs)
NM_000337.6(SGCD):c.483T>A (p.Ala161=)
NM_000337.6(SGCD):c.488G>A (p.Arg163Lys)
NM_000337.6(SGCD):c.48C>T (p.Gly16=)
NM_000337.6(SGCD):c.491T>C (p.Leu164Ser) rs2113389732
NM_000337.6(SGCD):c.501A>G (p.Leu167=) rs1760873767
NM_000337.6(SGCD):c.502+11T>G
NM_000337.6(SGCD):c.502+12T>A
NM_000337.6(SGCD):c.502+12T>C
NM_000337.6(SGCD):c.502+13G>A
NM_000337.6(SGCD):c.502+13G>C
NM_000337.6(SGCD):c.502+15A>G
NM_000337.6(SGCD):c.502+17_502+19del
NM_000337.6(SGCD):c.502+18A>C
NM_000337.6(SGCD):c.502+19T>A
NM_000337.6(SGCD):c.502+19T>C
NM_000337.6(SGCD):c.502+2T>C
NM_000337.6(SGCD):c.503-13G>C
NM_000337.6(SGCD):c.503-13G>T
NM_000337.6(SGCD):c.503-16del rs1561835980
NM_000337.6(SGCD):c.503-18T>C rs2113585173
NM_000337.6(SGCD):c.503-19T>A rs940013005
NM_000337.6(SGCD):c.503-20C>T
NM_000337.6(SGCD):c.503-9T>A
NM_000337.6(SGCD):c.507G>T (p.Ala169=) rs10071079
NM_000337.6(SGCD):c.516A>C (p.Thr172=)
NM_000337.6(SGCD):c.516A>G (p.Thr172=) rs753952200
NM_000337.6(SGCD):c.51T>C (p.Ser17=)
NM_000337.6(SGCD):c.531T>C (p.Ser177=)
NM_000337.6(SGCD):c.534A>G (p.Ile178Met) rs1474496504
NM_000337.6(SGCD):c.540A>G (p.Thr180=)
NM_000337.6(SGCD):c.540_541del (p.Thr180_Pro181insTer)
NM_000337.6(SGCD):c.541C>T (p.Pro181Ser)
NM_000337.6(SGCD):c.546T>C (p.Asn182=)
NM_000337.6(SGCD):c.54G>T (p.Val18=) rs756970013
NM_000337.6(SGCD):c.567A>G (p.Lys189=)
NM_000337.6(SGCD):c.56G>C (p.Gly19Ala)
NM_000337.6(SGCD):c.571C>T (p.Leu191=)
NM_000337.6(SGCD):c.573A>G (p.Leu191=) rs780862246
NM_000337.6(SGCD):c.575+10T>G rs1581326695
NM_000337.6(SGCD):c.575+12A>C
NM_000337.6(SGCD):c.575+14T>C
NM_000337.6(SGCD):c.575+15T>G
NM_000337.6(SGCD):c.575+16T>C
NM_000337.6(SGCD):c.576-11G>A rs1305012762
NM_000337.6(SGCD):c.576-11G>T
NM_000337.6(SGCD):c.576-11del
NM_000337.6(SGCD):c.576-12G>A
NM_000337.6(SGCD):c.576-15T>C rs918017706
NM_000337.6(SGCD):c.576-19G>A
NM_000337.6(SGCD):c.576-1G>C rs2113176852
NM_000337.6(SGCD):c.576-20C>G
NM_000337.6(SGCD):c.576-5T>C rs1757386242
NM_000337.6(SGCD):c.576-7T>G rs2113176805
NM_000337.6(SGCD):c.579G>A (p.Leu193=)
NM_000337.6(SGCD):c.57G>T (p.Gly19=)
NM_000337.6(SGCD):c.580_582dup (p.Glu194dup) rs2113176912
NM_000337.6(SGCD):c.586C>A (p.Pro196Thr) rs1757387093
NM_000337.6(SGCD):c.588A>G (p.Pro196=)
NM_000337.6(SGCD):c.590C>G (p.Thr197Ser) rs1241850589
NM_000337.6(SGCD):c.591C>T (p.Thr197=) rs1469091652
NM_000337.6(SGCD):c.594G>T (p.Arg198=) rs754875886
NM_000337.6(SGCD):c.616A>G (p.Lys206Glu) rs1327580871
NM_000337.6(SGCD):c.620G>A (p.Gly207Glu)
NM_000337.6(SGCD):c.621A>C (p.Gly207=)
NM_000337.6(SGCD):c.622G>A (p.Val208Met)
NM_000337.6(SGCD):c.626A>C (p.Glu209Ala)
NM_000337.6(SGCD):c.631A>C (p.Asn211His) rs527801800
NM_000337.6(SGCD):c.649A>G (p.Met217Val) rs2113177878
NM_000337.6(SGCD):c.654_655del (p.Glu218fs)
NM_000337.6(SGCD):c.657del (p.Thr220fs) rs1369919728
NM_000337.6(SGCD):c.65dup (p.Tyr23fs) rs886043031
NM_000337.6(SGCD):c.662G>A (p.Cys221Tyr) rs1561899959
NM_000337.6(SGCD):c.663C>A (p.Cys221Ter) rs1175344271
NM_000337.6(SGCD):c.669A>G (p.Thr223=)
NM_000337.6(SGCD):c.66A>G (p.Val22=) rs900010728
NM_000337.6(SGCD):c.681G>A (p.Leu227=) rs2113178131
NM_000337.6(SGCD):c.683A>C (p.Glu228Ala) rs2113178162
NM_000337.6(SGCD):c.687C>T (p.Ser229=) rs1166804343
NM_000337.6(SGCD):c.691G>A (p.Asp231Asn) rs2113178203
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000337.6(SGCD):c.699+15G>A rs1440648894
NM_000337.6(SGCD):c.699+16G>A
NM_000337.6(SGCD):c.699+16G>T
NM_000337.6(SGCD):c.699+20G>C
NM_000337.6(SGCD):c.699+8del rs1581539353
NM_000337.6(SGCD):c.700-10_700-9del
NM_000337.6(SGCD):c.700-15A>G
NM_000337.6(SGCD):c.700-15A>T
NM_000337.6(SGCD):c.700-16T>C
NM_000337.6(SGCD):c.700-17C>T
NM_000337.6(SGCD):c.700-20T>C
NM_000337.6(SGCD):c.700-20T>G rs775624358
NM_000337.6(SGCD):c.700-6_700-3dup
NM_000337.6(SGCD):c.700-8G>A
NM_000337.6(SGCD):c.700-8_700-5dup rs2113185833
NM_000337.6(SGCD):c.708A>G (p.Leu236=) rs761623268
NM_000337.6(SGCD):c.714T>C (p.Ala238=) rs1554137275
NM_000337.6(SGCD):c.729A>G (p.Leu243=)
NM_000337.6(SGCD):c.735A>T (p.Arg245Ser)
NM_000337.6(SGCD):c.744T>G (p.His248Gln) rs1160680799
NM_000337.6(SGCD):c.74_77dup (p.Ile27fs) rs1554094947
NM_000337.6(SGCD):c.753C>T (p.Tyr251=)
NM_000337.6(SGCD):c.760A>G (p.Thr254Ala)
NM_000337.6(SGCD):c.761C>T (p.Thr254Ile) rs372607729
NM_000337.6(SGCD):c.762A>G (p.Thr254=)
NM_000337.6(SGCD):c.772C>T (p.Gln258Ter) rs1224803345
NM_000337.6(SGCD):c.775_777del (p.Lys259del) rs1207864818
NM_000337.6(SGCD):c.780C>G (p.Val260=) rs745905613
NM_000337.6(SGCD):c.790T>C (p.Cys264Arg) rs2113186659
NM_000337.6(SGCD):c.792C>G (p.Cys264Trp) rs367616773
NM_000337.6(SGCD):c.793G>C (p.Val265Leu)
NM_000337.6(SGCD):c.798C>A (p.Cys266Ter) rs371850230
NM_000337.6(SGCD):c.815T>G (p.Phe272Cys)
NM_000337.6(SGCD):c.819G>A (p.Leu273=)
NM_000337.6(SGCD):c.819G>T (p.Leu273=) rs563686455
NM_000337.6(SGCD):c.828A>G (p.Ala276=) rs2113186922
NM_000337.6(SGCD):c.832G>A (p.Ala278Thr) rs753240054
NM_000337.6(SGCD):c.832G>T (p.Ala278Ser) rs753240054
NM_000337.6(SGCD):c.833C>G (p.Ala278Gly)
NM_000337.6(SGCD):c.835G>A (p.Gly279Arg)
NM_000337.6(SGCD):c.837G>A (p.Gly279=)
NM_000337.6(SGCD):c.841A>G (p.Thr281Ala)
NM_000337.6(SGCD):c.846T>C (p.Cys282=) rs2113187047
NM_000337.6(SGCD):c.865T>C (p.Cys289Arg)
NM_000337.6(SGCD):c.870C>A (p.Leu290=)
NM_000337.6(SGCD):c.89G>A (p.Trp30Ter) rs121909296
NM_000337.6(SGCD):c.90G>A (p.Trp30Ter)
NM_000337.6(SGCD):c.91C>A (p.Arg31=) rs202223676
NM_000337.6(SGCD):c.97C>T (p.Arg33Ter) rs778760498
NM_000337.6(SGCD):c.99A>C (p.Arg33=)
NM_000337.6(SGCD):c.9T>C (p.Pro3=)

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