ClinVar Miner

List of variants reported as likely benign for Autosomal recessive limb-girdle muscular dystrophy type 2D

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 330
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000023.4(SGCA):c.329G>A (p.Arg110Gln) rs145697858 0.00087
NM_000023.4(SGCA):c.843C>A (p.Ala281=) rs149487996 0.00080
NM_000023.4(SGCA):c.366G>A (p.Leu122=) rs147739328 0.00075
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser) rs35130237 0.00056
NM_000023.4(SGCA):c.690G>C (p.Leu230=) rs139454982 0.00049
NM_000023.4(SGCA):c.1047C>T (p.Ala349=) rs199518562 0.00038
NM_000023.4(SGCA):c.189C>T (p.His63=) rs373770886 0.00030
NM_000023.4(SGCA):c.984-10G>A rs369385261 0.00026
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg) rs201131924 0.00024
NM_000023.4(SGCA):c.37+10G>T rs200626376 0.00019
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp) rs200137051 0.00013
NM_000023.4(SGCA):c.408C>T (p.Ala136=) rs143551687 0.00013
NM_000023.4(SGCA):c.819G>T (p.Pro273=) rs35972733 0.00013
NM_000023.4(SGCA):c.981C>T (p.Ser327=) rs368522117 0.00013
NM_000023.4(SGCA):c.320C>T (p.Ala107Val) rs186669379 0.00010
NM_000023.4(SGCA):c.816C>G (p.Asp272Glu) rs530646204 0.00010
NM_000023.4(SGCA):c.764C>T (p.Pro255Leu) rs138019537 0.00009
NM_000023.4(SGCA):c.62C>T (p.Thr21Ile) rs199804735 0.00006
NM_000023.4(SGCA):c.648C>T (p.Pro216=) rs758813493 0.00006
NM_000023.4(SGCA):c.657C>T (p.His219=) rs747684069 0.00006
NM_000023.4(SGCA):c.957-6C>T rs1406175539 0.00006
NM_000023.4(SGCA):c.313-10C>T rs569744194 0.00005
NM_000023.4(SGCA):c.585-33A>C rs1451479850 0.00005
NM_000023.4(SGCA):c.699C>T (p.Tyr233=) rs201860673 0.00005
NM_000023.4(SGCA):c.789C>A (p.Thr263=) rs769688229 0.00005
NM_000023.4(SGCA):c.978C>T (p.Thr326=) rs747187312 0.00005
NM_000023.4(SGCA):c.1053C>T (p.Arg351=) rs148373921 0.00004
NM_000023.4(SGCA):c.1155C>T (p.Asp385=) rs183964744 0.00004
NM_000023.4(SGCA):c.158-12C>T rs377120535 0.00004
NM_000023.4(SGCA):c.270C>T (p.Tyr90=) rs749205073 0.00004
NM_000023.4(SGCA):c.584+17A>G rs371673068 0.00004
NM_000023.4(SGCA):c.765G>A (p.Pro255=) rs376216559 0.00004
NM_000023.4(SGCA):c.90A>G (p.Pro30=) rs754840688 0.00004
NM_000023.4(SGCA):c.157+7G>A rs965018395 0.00003
NM_000023.4(SGCA):c.158-4C>A rs776411719 0.00003
NM_000023.4(SGCA):c.34G>A (p.Val12Met) rs766209304 0.00003
NM_000023.4(SGCA):c.522C>T (p.Asn174=) rs148960833 0.00003
NM_000023.4(SGCA):c.37+8G>A rs754950929 0.00002
NM_000023.4(SGCA):c.402C>T (p.Tyr134=) rs780264754 0.00002
NM_000023.4(SGCA):c.445C>T (p.Leu149=) rs1197751622 0.00002
NM_000023.4(SGCA):c.546G>A (p.Gly182=) rs765026954 0.00002
NM_000023.4(SGCA):c.584+13C>A rs565224729 0.00002
NM_000023.4(SGCA):c.1011C>T (p.Ile337=) rs1209145667 0.00001
NM_000023.4(SGCA):c.1014C>T (p.His338=) rs1273697097 0.00001
NM_000023.4(SGCA):c.1035G>A (p.Arg345=) rs374989747 0.00001
NM_000023.4(SGCA):c.1083C>T (p.Pro361=) rs763883513 0.00001
NM_000023.4(SGCA):c.108T>C (p.Phe36=) rs755416307 0.00001
NM_000023.4(SGCA):c.1104T>C (p.Gly368=) rs778379427 0.00001
NM_000023.4(SGCA):c.1128C>T (p.Asp376=) rs748132102 0.00001
NM_000023.4(SGCA):c.1131C>T (p.Ser377=) rs769951787 0.00001
NM_000023.4(SGCA):c.132G>A (p.Thr44=) rs886044035 0.00001
NM_000023.4(SGCA):c.147T>C (p.Pro49=) rs745447270 0.00001
NM_000023.4(SGCA):c.177C>T (p.His59=) rs199902950 0.00001
NM_000023.4(SGCA):c.312+19A>C rs527959287 0.00001
NM_000023.4(SGCA):c.313-5C>T rs200973744 0.00001
NM_000023.4(SGCA):c.354G>A (p.Gln118=) rs772233387 0.00001
NM_000023.4(SGCA):c.37+17T>A rs1231057453 0.00001
NM_000023.4(SGCA):c.38-7C>T rs769272010 0.00001
NM_000023.4(SGCA):c.38-8C>T rs908186145 0.00001
NM_000023.4(SGCA):c.429C>T (p.His143=) rs763446303 0.00001
NM_000023.4(SGCA):c.432T>C (p.Asp144=) rs774960107 0.00001
NM_000023.4(SGCA):c.435G>A (p.Ala145=) rs763694408 0.00001
NM_000023.4(SGCA):c.471C>T (p.Phe157=) rs758384359 0.00001
NM_000023.4(SGCA):c.501C>T (p.Pro167=) rs754962516 0.00001
NM_000023.4(SGCA):c.543T>A (p.Arg181=) rs776214016 0.00001
NM_000023.4(SGCA):c.549C>T (p.Gly183=) rs1300286751 0.00001
NM_000023.4(SGCA):c.555C>A (p.Val185=) rs201518390 0.00001
NM_000023.4(SGCA):c.584+10C>T rs937459293 0.00001
NM_000023.4(SGCA):c.584+16T>C rs1054945327 0.00001
NM_000023.4(SGCA):c.591C>T (p.Tyr197=) rs756137267 0.00001
NM_000023.4(SGCA):c.600G>A (p.Val200=) rs764188161 0.00001
NM_000023.4(SGCA):c.63C>T (p.Thr21=) rs775361706 0.00001
NM_000023.4(SGCA):c.705C>T (p.Thr235=) rs1291296598 0.00001
NM_000023.4(SGCA):c.711A>C (p.Ala237=) rs1207297075 0.00001
NM_000023.4(SGCA):c.72G>A (p.Gln24=) rs1904984718 0.00001
NM_000023.4(SGCA):c.748-5T>G rs1905249571 0.00001
NM_000023.4(SGCA):c.80C>T (p.Thr27Met) rs565069721 0.00001
NM_000023.4(SGCA):c.849C>T (p.Asp283=) rs764545490 0.00001
NM_000023.4(SGCA):c.864G>C (p.Val288=) rs1244830971 0.00001
NM_000023.4(SGCA):c.87C>T (p.His29=) rs757371081 0.00001
NM_000023.4(SGCA):c.894G>C (p.Leu298=) rs182535883 0.00001
NM_000023.4(SGCA):c.956+21C>T rs367690233 0.00001
NM_000023.4(SGCA):c.956+8T>C rs538839531 0.00001
NM_000023.4(SGCA):c.996C>A (p.Val332=) rs777162824 0.00001
NM_000023.4(SGCA):c.1011C>A (p.Ile337=) rs1209145667
NM_000023.4(SGCA):c.1033C>A (p.Arg345=)
NM_000023.4(SGCA):c.1044G>A (p.Ala348=) rs768722155
NM_000023.4(SGCA):c.1044G>T (p.Ala348=)
NM_000023.4(SGCA):c.1047C>G (p.Ala349=) rs199518562
NM_000023.4(SGCA):c.1062C>G (p.Pro354=) rs1905845398
NM_000023.4(SGCA):c.1062C>T (p.Pro354=) rs1905845398
NM_000023.4(SGCA):c.1068A>G (p.Pro356=)
NM_000023.4(SGCA):c.1071C>T (p.Leu357=)
NM_000023.4(SGCA):c.1074C>T (p.Ser358=)
NM_000023.4(SGCA):c.1078C>T (p.Leu360=)
NM_000023.4(SGCA):c.1080G>A (p.Leu360=)
NM_000023.4(SGCA):c.1092T>C (p.Asn364=)
NM_000023.4(SGCA):c.1098C>T (p.His366=) rs2144512069
NM_000023.4(SGCA):c.1108C>A (p.Arg370=) rs368243053
NM_000023.4(SGCA):c.1119C>T (p.Pro373=) rs1905853639
NM_000023.4(SGCA):c.1122C>T (p.Arg374=) rs2144512151
NM_000023.4(SGCA):c.1125G>A (p.Val375=) rs2144512161
NM_000023.4(SGCA):c.1134C>A (p.Ala378=) rs1235150688
NM_000023.4(SGCA):c.1146C>T (p.Leu382=) rs1263910576
NM_000023.4(SGCA):c.114C>T (p.His38=)
NM_000023.4(SGCA):c.1163G>A (p.Ter388=) rs2144512285
NM_000023.4(SGCA):c.118T>C (p.Leu40=) rs1598264597
NM_000023.4(SGCA):c.129G>A (p.Glu43=) rs2144493407
NM_000023.4(SGCA):c.132G>C (p.Thr44=)
NM_000023.4(SGCA):c.132G>T (p.Thr44=)
NM_000023.4(SGCA):c.138G>A (p.Leu46=)
NM_000023.4(SGCA):c.141C>T (p.Ser47=) rs1336059898
NM_000023.4(SGCA):c.157+13A>G
NM_000023.4(SGCA):c.157+15A>C
NM_000023.4(SGCA):c.157+15A>G
NM_000023.4(SGCA):c.157+16G>C
NM_000023.4(SGCA):c.157+20C>A
NM_000023.4(SGCA):c.158-10C>G rs746675022
NM_000023.4(SGCA):c.158-11G>T
NM_000023.4(SGCA):c.158-7C>T rs2144493874
NM_000023.4(SGCA):c.168C>T (p.Pro56=) rs1193836259
NM_000023.4(SGCA):c.171T>C (p.Ala57=) rs2144493974
NM_000023.4(SGCA):c.174C>T (p.Val58=) rs1167800537
NM_000023.4(SGCA):c.183C>T (p.Thr61=) rs2144494064
NM_000023.4(SGCA):c.18C>T (p.Phe6=) rs2144488335
NM_000023.4(SGCA):c.195C>T (p.His65=)
NM_000023.4(SGCA):c.201G>A (p.Gln67=)
NM_000023.4(SGCA):c.231C>A (p.Arg77=) rs1395463052
NM_000023.4(SGCA):c.234C>T (p.Tyr78=) rs1567739328
NM_000023.4(SGCA):c.237C>G (p.Thr79=)
NM_000023.4(SGCA):c.240G>A (p.Gln80=)
NM_000023.4(SGCA):c.243C>T (p.Arg81=)
NM_000023.4(SGCA):c.246C>T (p.Ser82=) rs1598265282
NM_000023.4(SGCA):c.273C>A (p.Gly91=)
NM_000023.4(SGCA):c.285A>G (p.Pro95=)
NM_000023.4(SGCA):c.291T>C (p.Asp97=)
NM_000023.4(SGCA):c.300C>G (p.Leu100=)
NM_000023.4(SGCA):c.30C>G (p.Leu10=)
NM_000023.4(SGCA):c.312+10G>A rs1905041121
NM_000023.4(SGCA):c.312+14C>T
NM_000023.4(SGCA):c.312+16del
NM_000023.4(SGCA):c.312+18G>A
NM_000023.4(SGCA):c.312+8dup
NM_000023.4(SGCA):c.313-17T>G
NM_000023.4(SGCA):c.313-18G>A
NM_000023.4(SGCA):c.313-18G>T
NM_000023.4(SGCA):c.313-19T>G
NM_000023.4(SGCA):c.313-4C>T rs2144495185
NM_000023.4(SGCA):c.313-5C>G
NM_000023.4(SGCA):c.315C>G (p.Val105=)
NM_000023.4(SGCA):c.321C>T (p.Ala107=)
NM_000023.4(SGCA):c.324C>T (p.Tyr108=)
NM_000023.4(SGCA):c.330G>A (p.Arg110=) rs2144495293
NM_000023.4(SGCA):c.33C>T (p.Leu11=) rs762704751
NM_000023.4(SGCA):c.342T>C (p.Asp114=)
NM_000023.4(SGCA):c.351G>A (p.Arg117=) rs2144495376
NM_000023.4(SGCA):c.363G>A (p.Val121=)
NM_000023.4(SGCA):c.366G>C (p.Leu122=)
NM_000023.4(SGCA):c.37+11G>A
NM_000023.4(SGCA):c.37+20A>G
NM_000023.4(SGCA):c.37+9G>T rs2144488503
NM_000023.4(SGCA):c.38-10G>A rs2144492975
NM_000023.4(SGCA):c.38-14T>C
NM_000023.4(SGCA):c.38-14del
NM_000023.4(SGCA):c.385+10G>A
NM_000023.4(SGCA):c.385+11C>T
NM_000023.4(SGCA):c.385+15G>A
NM_000023.4(SGCA):c.385+16C>T
NM_000023.4(SGCA):c.385+17C>T
NM_000023.4(SGCA):c.385+7C>G rs2144495517
NM_000023.4(SGCA):c.385+8T>C rs1905072495
NM_000023.4(SGCA):c.386-13C>T
NM_000023.4(SGCA):c.386-17C>T
NM_000023.4(SGCA):c.386-18T>A
NM_000023.4(SGCA):c.386-19G>A
NM_000023.4(SGCA):c.386-8C>G
NM_000023.4(SGCA):c.386-9C>G
NM_000023.4(SGCA):c.386-9C>T rs1905100056
NM_000023.4(SGCA):c.390C>G (p.Pro130=) rs932963471
NM_000023.4(SGCA):c.390C>T (p.Pro130=) rs932963471
NM_000023.4(SGCA):c.393G>A (p.Leu131=)
NM_000023.4(SGCA):c.393G>C (p.Leu131=) rs758472374
NM_000023.4(SGCA):c.408C>G (p.Ala136=) rs143551687
NM_000023.4(SGCA):c.417G>T (p.Leu139=) rs375282807
NM_000023.4(SGCA):c.423C>T (p.Arg141=) rs2144496522
NM_000023.4(SGCA):c.438G>A (p.Glu146=) rs1336182341
NM_000023.4(SGCA):c.441G>A (p.Glu147=) rs1211942968
NM_000023.4(SGCA):c.444G>A (p.Val148=) rs1598267119
NM_000023.4(SGCA):c.453A>G (p.Ser151=)
NM_000023.4(SGCA):c.45G>C (p.Leu15=) rs2144493029
NM_000023.4(SGCA):c.462C>A (p.Ala154=)
NM_000023.4(SGCA):c.468C>G (p.Arg156=)
NM_000023.4(SGCA):c.468C>T (p.Arg156=) rs750297310
NM_000023.4(SGCA):c.474C>G (p.Leu158=) rs2144496728
NM_000023.4(SGCA):c.480C>G (p.Ala160=) rs2144496738
NM_000023.4(SGCA):c.480C>T (p.Ala160=) rs2144496738
NM_000023.4(SGCA):c.481T>C (p.Leu161=)
NM_000023.4(SGCA):c.486G>A (p.Gly162=) rs1598267271
NM_000023.4(SGCA):c.489A>G (p.Gly163=) rs1198477143
NM_000023.4(SGCA):c.489A>T (p.Gly163=)
NM_000023.4(SGCA):c.498G>A (p.Glu166=) rs1598267318
NM_000023.4(SGCA):c.49G>A (p.Gly17Arg) rs573792379
NM_000023.4(SGCA):c.516G>C (p.Leu172=) rs2144496890
NM_000023.4(SGCA):c.519C>T (p.Leu173=) rs1905118125
NM_000023.4(SGCA):c.525C>A (p.Val175=) rs1169044148
NM_000023.4(SGCA):c.535T>C (p.Leu179=)
NM_000023.4(SGCA):c.57G>A (p.Gly19=) rs2144493078
NM_000023.4(SGCA):c.584+10C>A
NM_000023.4(SGCA):c.584+10C>G rs937459293
NM_000023.4(SGCA):c.584+11A>C
NM_000023.4(SGCA):c.584+15C>G
NM_000023.4(SGCA):c.584+18G>A
NM_000023.4(SGCA):c.584+19A>C
NM_000023.4(SGCA):c.584+20G>A
NM_000023.4(SGCA):c.584+9G>A
NM_000023.4(SGCA):c.585-12A>G
NM_000023.4(SGCA):c.585-23C>T
NM_000023.4(SGCA):c.585-27C>T
NM_000023.4(SGCA):c.585-27del
NM_000023.4(SGCA):c.585-28G>A
NM_000023.4(SGCA):c.585-29T>G
NM_000023.4(SGCA):c.585-30C>G
NM_000023.4(SGCA):c.585-32C>A
NM_000023.4(SGCA):c.585-33A>G
NM_000023.4(SGCA):c.585-5_585-4delinsTG rs2144498044
NM_000023.4(SGCA):c.588A>G (p.Val196=)
NM_000023.4(SGCA):c.594T>C (p.Ile198=) rs2144498108
NM_000023.4(SGCA):c.597G>A (p.Lys199=) rs1304471544
NM_000023.4(SGCA):c.603T>C (p.Gly201=)
NM_000023.4(SGCA):c.615T>G (p.Pro205=)
NM_000023.4(SGCA):c.621T>A (p.Ser207=)
NM_000023.4(SGCA):c.627C>T (p.Cys209=)
NM_000023.4(SGCA):c.633G>A (p.Lys211=) rs2144498199
NM_000023.4(SGCA):c.645C>G (p.Ser215=)
NM_000023.4(SGCA):c.651T>C (p.Asp217=) rs2144498247
NM_000023.4(SGCA):c.669C>T (p.Ala223=)
NM_000023.4(SGCA):c.675C>G (p.Gly225=)
NM_000023.4(SGCA):c.675C>T (p.Gly225=) rs773985328
NM_000023.4(SGCA):c.678G>A (p.Gln226=) rs2144498364
NM_000023.4(SGCA):c.681T>C (p.Pro227=) rs1305502363
NM_000023.4(SGCA):c.690G>A (p.Leu230=) rs139454982
NM_000023.4(SGCA):c.706T>C (p.Leu236=)
NM_000023.4(SGCA):c.714C>G (p.Pro238=) rs2144498471
NM_000023.4(SGCA):c.717C>T (p.His239=) rs2144498480
NM_000023.4(SGCA):c.723C>T (p.Arg241=) rs750636856
NM_000023.4(SGCA):c.747+13C>G
NM_000023.4(SGCA):c.747+14C>A
NM_000023.4(SGCA):c.747+17G>A
NM_000023.4(SGCA):c.747+19T>C
NM_000023.4(SGCA):c.747+20C>T
NM_000023.4(SGCA):c.747+9G>A rs1598268788
NM_000023.4(SGCA):c.748-19C>T
NM_000023.4(SGCA):c.748-6G>A
NM_000023.4(SGCA):c.748-7T>C
NM_000023.4(SGCA):c.750G>A (p.Val250=)
NM_000023.4(SGCA):c.762G>A (p.Val254=) rs2144500656
NM_000023.4(SGCA):c.768G>A (p.Glu256=) rs2144500681
NM_000023.4(SGCA):c.771T>G (p.Pro257=)
NM_000023.4(SGCA):c.780G>A (p.Glu260=)
NM_000023.4(SGCA):c.783G>C (p.Val261=) rs1905254161
NM_000023.4(SGCA):c.786C>T (p.Pro262=) rs780981677
NM_000023.4(SGCA):c.789C>G (p.Thr263=) rs769688229
NM_000023.4(SGCA):c.78C>T (p.Thr26=)
NM_000023.4(SGCA):c.804C>T (p.Ile268=) rs1905257217
NM_000023.4(SGCA):c.805C>T (p.Leu269=)
NM_000023.4(SGCA):c.813T>C (p.His271=)
NM_000023.4(SGCA):c.819G>A (p.Pro273=) rs35972733
NM_000023.4(SGCA):c.81G>A (p.Thr27=) rs2144493184
NM_000023.4(SGCA):c.825C>T (p.Phe275=) rs1363461236
NM_000023.4(SGCA):c.828C>T (p.Cys276=) rs2144500924
NM_000023.4(SGCA):c.82C>T (p.Leu28=) rs753896716
NM_000023.4(SGCA):c.837T>C (p.Thr279=) rs775773189
NM_000023.4(SGCA):c.867T>C (p.Asp289=) rs751156929
NM_000023.4(SGCA):c.879C>A (p.Thr293=) rs1209538410
NM_000023.4(SGCA):c.882C>G (p.Leu294=) rs886044216
NM_000023.4(SGCA):c.883C>T (p.Leu295=) rs777523838
NM_000023.4(SGCA):c.903C>T (p.Ala301=)
NM_000023.4(SGCA):c.904C>T (p.Leu302=) rs373603128
NM_000023.4(SGCA):c.906G>C (p.Leu302=)
NM_000023.4(SGCA):c.90A>C (p.Pro30=) rs754840688
NM_000023.4(SGCA):c.912C>T (p.Leu304=) rs965941711
NM_000023.4(SGCA):c.915C>A (p.Thr305=)
NM_000023.4(SGCA):c.915C>G (p.Thr305=)
NM_000023.4(SGCA):c.922C>T (p.Leu308=)
NM_000023.4(SGCA):c.927C>T (p.Ala309=)
NM_000023.4(SGCA):c.939C>T (p.Cys313=) rs2144501264
NM_000023.4(SGCA):c.93T>G (p.Leu31=) rs1000827324
NM_000023.4(SGCA):c.945G>A (p.Arg315=)
NM_000023.4(SGCA):c.948G>A (p.Arg316=) rs758785065
NM_000023.4(SGCA):c.951G>A (p.Glu317=)
NM_000023.4(SGCA):c.956+13A>C
NM_000023.4(SGCA):c.956+13A>G
NM_000023.4(SGCA):c.956+14T>C
NM_000023.4(SGCA):c.956+18G>A
NM_000023.4(SGCA):c.956+19G>A
NM_000023.4(SGCA):c.956+9G>A
NM_000023.4(SGCA):c.957-12A>G
NM_000023.4(SGCA):c.957-12A>T
NM_000023.4(SGCA):c.957-16C>T
NM_000023.4(SGCA):c.957-17C>T
NM_000023.4(SGCA):c.957-19C>T
NM_000023.4(SGCA):c.957-5C>T
NM_000023.4(SGCA):c.957-6C>G
NM_000023.4(SGCA):c.957-8T>G
NM_000023.4(SGCA):c.958C>T (p.Leu320=) rs1905303889
NM_000023.4(SGCA):c.966A>G (p.Arg322=)
NM_000023.4(SGCA):c.970C>T (p.Leu324=)
NM_000023.4(SGCA):c.975T>A (p.Ala325=) rs2144502104
NM_000023.4(SGCA):c.983+10G>A
NM_000023.4(SGCA):c.983+10G>C rs2144502163
NM_000023.4(SGCA):c.983+11G>A
NM_000023.4(SGCA):c.983+12A>G
NM_000023.4(SGCA):c.983+16C>A
NM_000023.4(SGCA):c.983+16_983+17insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGGAAAGC
NM_000023.4(SGCA):c.983+17T>C
NM_000023.4(SGCA):c.983+18G>A
NM_000023.4(SGCA):c.983+19G>A rs1231515934
NM_000023.4(SGCA):c.983+19G>C
NM_000023.4(SGCA):c.983+20G>A
NM_000023.4(SGCA):c.984-11T>G
NM_000023.4(SGCA):c.984-12C>T
NM_000023.4(SGCA):c.984-15C>G
NM_000023.4(SGCA):c.984-17C>A
NM_000023.4(SGCA):c.984-20C>T
NM_000023.4(SGCA):c.984-6C>T
NM_000023.4(SGCA):c.984-8G>T
NM_000023.4(SGCA):c.990G>A (p.Gln330=) rs755619226
NM_000023.4(SGCA):c.996C>T (p.Val332=) rs777162824
NM_000023.4(SGCA):c.999C>T (p.His333=) rs1330191790
NM_000023.4(SGCA):c.99C>T (p.Gly33=) rs750582302

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.