List of variants reported as uncertain significance for autosomal recessive limb-girdle muscular dystrophy type 2D by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 140

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HGVS	dbSNP	gnomAD frequency
NM_000023.4(SGCA):c.115A>G (p.Thr39Ala)	rs540292629	0.00026
NM_000023.4(SGCA):c.172G>C (p.Val58Leu)	rs141953249	0.00017
NM_000023.4(SGCA):c.929A>G (p.Tyr310Cys)	rs145252144	0.00016
NM_000023.4(SGCA):c.1076C>A (p.Thr359Asn)	rs146924667	0.00010
NM_000023.4(SGCA):c.1051C>T (p.Arg351Cys)	rs143365858	0.00009
NM_000023.4(SGCA):c.155T>G (p.Val52Gly)	rs148132791	0.00009
NM_000023.4(SGCA):c.983A>T (p.Asp328Val)	rs966135192	0.00008
NM_000023.4(SGCA):c.312+6G>A	rs371433770	0.00007
NM_000023.4(SGCA):c.350G>A (p.Arg117Gln)	rs117672945	0.00007
NM_000023.4(SGCA):c.766G>A (p.Glu256Lys)	rs746698767	0.00007
NM_000023.4(SGCA):c.1063C>T (p.Arg355Trp)	rs766855169	0.00006
NM_000023.4(SGCA):c.349C>T (p.Arg117Trp)	rs200075504	0.00006
NM_000023.4(SGCA):c.575G>A (p.Arg192Gln)	rs200945974	0.00005
NM_000023.4(SGCA):c.466C>T (p.Arg156Cys)	rs538696245	0.00004
NM_000023.4(SGCA):c.467G>A (p.Arg156His)	rs558473298	0.00004
NM_000023.4(SGCA):c.582A>C (p.Glu194Asp)	rs199791980	0.00004
NM_000023.4(SGCA):c.869C>T (p.Ala290Val)	rs373312721	0.00004
NM_000023.4(SGCA):c.1091A>G (p.Asn364Ser)	rs756912039	0.00003
NM_000023.4(SGCA):c.1133C>T (p.Ala378Val)	rs751466306	0.00003
NM_000023.4(SGCA):c.307A>G (p.Ile103Val)	rs370819630	0.00003
NM_000023.4(SGCA):c.551G>A (p.Arg184His)	rs142169382	0.00003
NM_000023.4(SGCA):c.58G>T (p.Asp20Tyr)	rs759284746	0.00003
NM_000023.4(SGCA):c.1109G>A (p.Arg370Gln)	rs779834721	0.00002
NM_000023.4(SGCA):c.1132G>A (p.Ala378Thr)	rs375692868	0.00002
NM_000023.4(SGCA):c.199C>G (p.Gln67Glu)	rs753180048	0.00002
NM_000023.4(SGCA):c.230G>A (p.Arg77His)	rs369340251	0.00002
NM_000023.4(SGCA):c.312+5C>T	rs377006294	0.00002
NM_000023.4(SGCA):c.58G>A (p.Asp20Asn)	rs759284746	0.00002
NM_000023.4(SGCA):c.724G>A (p.Val242Ile)	rs200166783	0.00002
NM_000023.4(SGCA):c.1015G>A (p.Gly339Arg)	rs540254057	0.00001
NM_000023.4(SGCA):c.1034G>A (p.Arg345Gln)	rs771876078	0.00001
NM_000023.4(SGCA):c.1064G>A (p.Arg355Gln)	rs1270625423	0.00001
NM_000023.4(SGCA):c.1108C>T (p.Arg370Trp)	rs368243053	0.00001
NM_000023.4(SGCA):c.1121G>A (p.Arg374His)	rs150524482	0.00001
NM_000023.4(SGCA):c.1136A>G (p.Gln379Arg)	rs930871528	0.00001
NM_000023.4(SGCA):c.1159C>T (p.His387Tyr)	rs1905861368	0.00001
NM_000023.4(SGCA):c.131C>T (p.Thr44Met)	rs770516658	0.00001
NM_000023.4(SGCA):c.289G>C (p.Asp97His)	rs774299871	0.00001
NM_000023.4(SGCA):c.37+3A>G	rs1370709181	0.00001
NM_000023.4(SGCA):c.422G>A (p.Arg141His)	rs1325350236	0.00001
NM_000023.4(SGCA):c.430G>A (p.Asp144Asn)	rs771485989	0.00001
NM_000023.4(SGCA):c.442G>A (p.Val148Met)	rs1288174276	0.00001
NM_000023.4(SGCA):c.488G>C (p.Gly163Ala)	rs1356585975	0.00001
NM_000023.4(SGCA):c.506A>T (p.Glu169Val)	rs376376394	0.00001
NM_000023.4(SGCA):c.592A>G (p.Ile198Val)	rs375463037	0.00001
NM_000023.4(SGCA):c.649G>A (p.Asp217Asn)	rs780564461	0.00001
NM_000023.4(SGCA):c.64G>A (p.Glu22Lys)	rs753784732	0.00001
NM_000023.4(SGCA):c.658G>A (p.Ala220Thr)	rs958974999	0.00001
NM_000023.4(SGCA):c.700G>A (p.Asp234Asn)	rs760608643	0.00001
NM_000023.4(SGCA):c.708G>C (p.Leu236Phe)	rs1483510494	0.00001
NM_000023.4(SGCA):c.716A>G (p.His239Arg)	rs398123099	0.00001
NM_000023.4(SGCA):c.721C>T (p.Arg241Cys)	rs753972912	0.00001
NM_000023.4(SGCA):c.737A>G (p.Asn246Ser)	rs886042858	0.00001
NM_000023.4(SGCA):c.747+3G>A	rs368388538	0.00001
NM_000023.4(SGCA):c.748-3C>T	rs794727834	0.00001
NM_000023.4(SGCA):c.847G>C (p.Asp283His)	rs766674286	0.00001
NM_000023.4(SGCA):c.89C>T (p.Pro30Leu)	rs886043256	0.00001
NM_000023.4(SGCA):c.957-11C>G	rs1391089933	0.00001
NM_000023.4(SGCA):c.974C>T (p.Ala325Val)	rs780200261	0.00001
NC_000017.10:g.(?_48243402)_(48278874_?)dup
NC_000017.10:g.(?_48252608)_(48253303_?)del
NM_000023.4(SGCA):c.1001A>G (p.His334Arg)
NM_000023.4(SGCA):c.1007_1009dup (p.Thr336dup)	rs2144511791
NM_000023.4(SGCA):c.1010T>C (p.Ile337Thr)	rs1353699486
NM_000023.4(SGCA):c.103G>A (p.Val35Ile)
NM_000023.4(SGCA):c.1041G>A (p.Met347Ile)
NM_000023.4(SGCA):c.1043C>T (p.Ala348Val)
NM_000023.4(SGCA):c.1054G>C (p.Glu352Gln)	rs763372958
NM_000023.4(SGCA):c.1067C>G (p.Pro356Arg)
NM_000023.4(SGCA):c.106T>G (p.Phe36Val)	rs1904989565
NM_000023.4(SGCA):c.1073C>T (p.Ser358Phe)	rs1173172749
NM_000023.4(SGCA):c.1093G>C (p.Val365Leu)	rs1905851242
NM_000023.4(SGCA):c.1105G>A (p.Glu369Lys)
NM_000023.4(SGCA):c.1114C>T (p.Pro372Ser)
NM_000023.4(SGCA):c.1148T>A (p.Ile383Asn)
NM_000023.4(SGCA):c.1153_1163del (p.Asp385fs)	rs1487379783
NM_000023.4(SGCA):c.13C>G (p.Leu5Val)	rs2144488329
NM_000023.4(SGCA):c.164C>T (p.Pro55Leu)
NM_000023.4(SGCA):c.169G>A (p.Ala57Thr)	rs769778891
NM_000023.4(SGCA):c.187C>T (p.His63Tyr)	rs1905021704
NM_000023.4(SGCA):c.201G>A (p.Gln67=)
NM_000023.4(SGCA):c.208C>T (p.Pro70Ser)	rs1348067599
NM_000023.4(SGCA):c.238C>G (p.Gln80Glu)	rs2144494297
NM_000023.4(SGCA):c.246C>A (p.Ser82Arg)	rs1598265282
NM_000023.4(SGCA):c.257C>T (p.Pro86Leu)	rs2144494380
NM_000023.4(SGCA):c.284C>G (p.Pro95Arg)	rs1905033797
NM_000023.4(SGCA):c.286G>A (p.Glu96Lys)
NM_000023.4(SGCA):c.28C>T (p.Leu10Phe)
NM_000023.4(SGCA):c.304G>A (p.Val102Ile)	rs1266940329
NM_000023.4(SGCA):c.310G>A (p.Glu104Lys)	rs2144494625
NM_000023.4(SGCA):c.312+11G>A
NM_000023.4(SGCA):c.312G>A (p.Glu104=)	rs886044401
NM_000023.4(SGCA):c.313-3C>T	rs1905060607
NM_000023.4(SGCA):c.319G>A (p.Ala107Thr)
NM_000023.4(SGCA):c.333C>A (p.Asp111Glu)	rs1905064323
NM_000023.4(SGCA):c.341A>C (p.Asp114Ala)	rs749097695
NM_000023.4(SGCA):c.37+6T>C	rs751466815
NM_000023.4(SGCA):c.376G>A (p.Asp126Asn)	rs1905070029
NM_000023.4(SGCA):c.385+5C>T
NM_000023.4(SGCA):c.388C>T (p.Pro130Ser)
NM_000023.4(SGCA):c.421C>T (p.Arg141Cys)
NM_000023.4(SGCA):c.436G>C (p.Glu146Gln)	rs1555568758
NM_000023.4(SGCA):c.448C>A (p.Pro150Thr)
NM_000023.4(SGCA):c.461C>T (p.Ala154Val)	rs957820595
NM_000023.4(SGCA):c.465C>G (p.Ser155Arg)	rs2144496691
NM_000023.4(SGCA):c.483_484delinsCT (p.Leu161_Gly162delinsPheTrp)	rs1555568788
NM_000023.4(SGCA):c.498G>C (p.Glu166Asp)	rs1598267318
NM_000023.4(SGCA):c.523G>A (p.Val175Ile)
NM_000023.4(SGCA):c.52C>G (p.Leu18Val)	rs1555568100
NM_000023.4(SGCA):c.541C>A (p.Arg181Ser)	rs574376340
NM_000023.4(SGCA):c.541C>T (p.Arg181Cys)	rs574376340
NM_000023.4(SGCA):c.542G>A (p.Arg181His)
NM_000023.4(SGCA):c.542G>T (p.Arg181Leu)	rs746412103
NM_000023.4(SGCA):c.548G>T (p.Gly183Val)	rs773107290
NM_000023.4(SGCA):c.550C>T (p.Arg184Cys)
NM_000023.4(SGCA):c.56G>A (p.Gly19Glu)
NM_000023.4(SGCA):c.584G>T (p.Gly195Val)
NM_000023.4(SGCA):c.586G>T (p.Val196Leu)	rs752695991
NM_000023.4(SGCA):c.588_599del (p.Tyr197_Val200del)	rs1555568966
NM_000023.4(SGCA):c.608C>T (p.Ala203Val)
NM_000023.4(SGCA):c.635T>A (p.Met212Lys)	rs2144498202
NM_000023.4(SGCA):c.643T>C (p.Ser215Pro)	rs76542495
NM_000023.4(SGCA):c.646C>T (p.Pro216Ser)
NM_000023.4(SGCA):c.668C>T (p.Ala223Val)
NM_000023.4(SGCA):c.674G>A (p.Gly225Asp)	rs886044540
NM_000023.4(SGCA):c.695G>A (p.Cys232Tyr)	rs2144498403
NM_000023.4(SGCA):c.722G>A (p.Arg241His)
NM_000023.4(SGCA):c.731G>C (p.Trp244Ser)
NM_000023.4(SGCA):c.748-11_748-10delinsAA	rs2144500582
NM_000023.4(SGCA):c.748G>T (p.Val250Leu)	rs1473539605
NM_000023.4(SGCA):c.750G>A (p.Val250=)
NM_000023.4(SGCA):c.772G>T (p.Ala258Ser)	rs934936899
NM_000023.4(SGCA):c.781G>A (p.Val261Met)	rs754703769
NM_000023.4(SGCA):c.781G>T (p.Val261Leu)	rs754703769
NM_000023.4(SGCA):c.829C>T (p.Pro277Ser)	rs2144500932
NM_000023.4(SGCA):c.842C>T (p.Ala281Val)	rs1905262104
NM_000023.4(SGCA):c.905T>C (p.Leu302Pro)
NM_000023.4(SGCA):c.946C>T (p.Arg316Trp)
NM_000023.4(SGCA):c.969C>A (p.Asp323Glu)	rs1309107612
NM_000023.4(SGCA):c.977C>T (p.Thr326Ile)

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