List of variants reported as likely benign for autosomal recessive limb-girdle muscular dystrophy type 2F 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: 204

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HGVS	dbSNP	gnomAD frequency
NM_000337.6(SGCD):c.213G>A (p.Arg71=)	rs74846539	0.00115
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.848A>G (p.Gln283Arg)	rs397516338	0.00019
NM_000337.6(SGCD):c.817C>T (p.Leu273=)	rs375029639	0.00016
NM_000337.6(SGCD):c.123C>G (p.Leu41=)	rs200670993	0.00015
NM_000337.6(SGCD):c.717G>A (p.Ala239=)	rs145430692	0.00009
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.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.756G>A (p.Thr252=)	rs756467431	0.00004
NM_000337.6(SGCD):c.294+15A>C	rs377470284	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.630C>T (p.Ile210=)	rs763051644	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.153C>T (p.Ala51=)	rs1021837057	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.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.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.4-7A>G	rs1161530606	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.503-11T>G	rs372967785	0.00001
NM_000337.6(SGCD):c.54G>A (p.Val18=)	rs756970013	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.642T>C (p.Ala214=)	rs778303434	0.00001
NM_000337.6(SGCD):c.768G>A (p.Thr256=)	rs376141942	0.00001
NM_000337.6(SGCD):c.99A>T (p.Arg33=)	rs745487169	0.00001
NM_000337.6(SGCD):c.105G>T (p.Leu35=)	rs193922392
NM_000337.6(SGCD):c.118C>T (p.Leu40=)
NM_000337.6(SGCD):c.147C>T (p.Asn49=)	rs2127716692
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.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+14T>C
NM_000337.6(SGCD):c.192+18G>T
NM_000337.6(SGCD):c.192+19G>A
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.193-18C>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.204A>G (p.Gly68=)
NM_000337.6(SGCD):c.219A>G (p.Thr73=)
NM_000337.6(SGCD):c.234G>A (p.Lys78=)
NM_000337.6(SGCD):c.240A>G (p.Glu80=)
NM_000337.6(SGCD):c.243A>G (p.Gly81=)
NM_000337.6(SGCD):c.255C>T (p.Phe85=)
NM_000337.6(SGCD):c.267C>G (p.Leu89=)
NM_000337.6(SGCD):c.282C>A (p.Ile94=)
NM_000337.6(SGCD):c.288C>T (p.Ser96=)
NM_000337.6(SGCD):c.289C>A (p.Arg97=)
NM_000337.6(SGCD):c.294+16G>C
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.295-20C>G	rs144250417
NM_000337.6(SGCD):c.295-20_295-17del
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>G	rs182715924
NM_000337.6(SGCD):c.3+19C>T	rs182715924
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.333A>C (p.Thr111=)	rs886042290
NM_000337.6(SGCD):c.33G>A (p.Arg11=)
NM_000337.6(SGCD):c.351C>T (p.Asp117=)
NM_000337.6(SGCD):c.357T>C (p.Thr119=)	rs886044132
NM_000337.6(SGCD):c.357T>G (p.Thr119=)
NM_000337.6(SGCD):c.363G>T (p.Val121=)	rs1327634775
NM_000337.6(SGCD):c.372G>A (p.Gln124=)
NM_000337.6(SGCD):c.382+12G>A
NM_000337.6(SGCD):c.382+12del
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>G
NM_000337.6(SGCD):c.383-9A>T	rs995515938
NM_000337.6(SGCD):c.383-9_383-8del
NM_000337.6(SGCD):c.384T>C (p.Gly128=)
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.405T>C (p.Tyr135=)
NM_000337.6(SGCD):c.414A>G (p.Lys138=)
NM_000337.6(SGCD):c.447C>T (p.Leu149=)
NM_000337.6(SGCD):c.465T>C (p.Asn155=)
NM_000337.6(SGCD):c.468A>G (p.Glu156=)
NM_000337.6(SGCD):c.471G>A (p.Val157=)
NM_000337.6(SGCD):c.477A>G (p.Val159=)
NM_000337.6(SGCD):c.483T>A (p.Ala161=)
NM_000337.6(SGCD):c.48C>T (p.Gly16=)
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+17_502+19del
NM_000337.6(SGCD):c.502+18A>C
NM_000337.6(SGCD):c.502+19T>A
NM_000337.6(SGCD):c.503-13G>C
NM_000337.6(SGCD):c.503-13G>T
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.507G>T (p.Ala169=)	rs10071079
NM_000337.6(SGCD):c.516A>C (p.Thr172=)
NM_000337.6(SGCD):c.531T>C (p.Ser177=)
NM_000337.6(SGCD):c.540A>G (p.Thr180=)
NM_000337.6(SGCD):c.546T>C (p.Asn182=)
NM_000337.6(SGCD):c.54G>T (p.Val18=)	rs756970013
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+16T>C
NM_000337.6(SGCD):c.576-11G>A	rs1305012762
NM_000337.6(SGCD):c.576-11G>T
NM_000337.6(SGCD):c.576-12G>A
NM_000337.6(SGCD):c.576-15T>C	rs918017706
NM_000337.6(SGCD):c.576-19G>A
NM_000337.6(SGCD):c.576-20C>G
NM_000337.6(SGCD):c.576-5T>C	rs1757386242
NM_000337.6(SGCD):c.576-7T>G	rs2113176805
NM_000337.6(SGCD):c.57G>T (p.Gly19=)
NM_000337.6(SGCD):c.588A>G (p.Pro196=)
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.621A>C (p.Gly207=)
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.687C>T (p.Ser229=)	rs1166804343
NM_000337.6(SGCD):c.699+15G>A	rs1440648894
NM_000337.6(SGCD):c.699+20G>C
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.700-8_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.753C>T (p.Tyr251=)
NM_000337.6(SGCD):c.762A>G (p.Thr254=)
NM_000337.6(SGCD):c.780C>G (p.Val260=)	rs745905613
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.837G>A (p.Gly279=)
NM_000337.6(SGCD):c.846T>C (p.Cys282=)	rs2113187047
NM_000337.6(SGCD):c.870C>A (p.Leu290=)
NM_000337.6(SGCD):c.91C>A (p.Arg31=)	rs202223676
NM_000337.6(SGCD):c.99A>C (p.Arg33=)
NM_000337.6(SGCD):c.9T>C (p.Pro3=)

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