List of variants in gene SGCA reported as pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2D

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

Total variants: 96

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HGVS	dbSNP	gnomAD frequency
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)	rs28933693	0.00046
NM_000023.4(SGCA):c.739G>A (p.Val247Met)	rs143570936	0.00019
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)	rs138945081	0.00014
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)	rs137852623	0.00013
NM_000023.4(SGCA):c.614C>A (p.Pro205His)	rs757481230	0.00005
NM_000023.4(SGCA):c.221G>A (p.Arg74Gln)	rs779439298	0.00003
NM_000023.4(SGCA):c.293G>A (p.Arg98His)	rs137852621	0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)	rs768814872	0.00003
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)	rs143962150	0.00003
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)	rs758647756	0.00002
NM_000023.4(SGCA):c.197T>A (p.Leu66His)	rs767928766	0.00002
NM_000023.4(SGCA):c.101G>A (p.Arg34His)	rs371675217	0.00001
NM_000023.4(SGCA):c.157+1G>A	rs113109898	0.00001
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr)	rs60407644	0.00001
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr)	rs759692350	0.00001
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp)	rs757888349	0.00001
NM_000023.4(SGCA):c.313-2A>G	rs1057516650	0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)	rs372210292	0.00001
NM_000023.4(SGCA):c.489del (p.Leu164fs)	rs753650776	0.00001
NM_000023.4(SGCA):c.530del (p.Ser177fs)	rs886041387	0.00001
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter)	rs387907298	0.00001
NM_000023.4(SGCA):c.585-1G>A	rs1342189589	0.00001
NC_000017.10:g.(?_48243138)_(48245027_?)del
NC_000017.10:g.(?_48243138)_48245027del
NC_000017.10:g.(?_48243336)_(48246625_?)del
NC_000017.10:g.(?_48243336)_(48253303_?)del
NM_000023.2(SGCA):c.586delG	rs1220674950
NM_000023.4(SGCA):c.1025_1026del (p.Glu342fs)
NM_000023.4(SGCA):c.1039_1042dup (p.Ala348fs)	rs1598277713
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter)	rs763372958
NM_000023.4(SGCA):c.105del (p.Phe36fs)	rs2144493323
NM_000023.4(SGCA):c.132_135dup (p.Leu46fs)	rs2144493427
NM_000023.4(SGCA):c.168del (p.Ala57fs)	rs1555568264
NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter)	rs766400853
NM_000023.4(SGCA):c.1A>G (p.Met1Val)
NM_000023.4(SGCA):c.203G>A (p.Gly68Glu)	rs2144494148
NM_000023.4(SGCA):c.203del (p.Gly68fs)	rs1567739228
NM_000023.4(SGCA):c.218C>G (p.Pro73Arg)
NM_000023.4(SGCA):c.225del (p.Trp75fs)
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe)	rs1555568335
NM_000023.4(SGCA):c.229dup (p.Arg77fs)
NM_000023.4(SGCA):c.233_234delinsGA (p.Tyr78Ter)	rs1598265248
NM_000023.4(SGCA):c.236_237insA (p.Gln80fs)	rs1567739339
NM_000023.4(SGCA):c.238C>T (p.Gln80Ter)	rs2144494297
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys)	rs398123098
NM_000023.4(SGCA):c.250dup (p.His84fs)
NM_000023.4(SGCA):c.265C>T (p.Leu89Phe)	rs773161308
NM_000023.4(SGCA):c.26dup (p.Leu10fs)	rs1904771410
NM_000023.4(SGCA):c.292C>G (p.Arg98Gly)	rs138945081
NM_000023.4(SGCA):c.293G>C (p.Arg98Pro)	rs137852621
NM_000023.4(SGCA):c.29_33del (p.Leu10fs)
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)	rs1161291343
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)
NM_000023.4(SGCA):c.317_318del (p.Thr106fs)	rs1567739735
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs)	rs1555568518
NM_000023.4(SGCA):c.348_352dup (p.Gln118fs)	rs752640127
NM_000023.4(SGCA):c.364C>G (p.Leu122Val)	rs1567739857
NM_000023.4(SGCA):c.37+6T>C	rs751466815
NM_000023.4(SGCA):c.377dup (p.Asp126fs)	rs1905070544
NM_000023.4(SGCA):c.385+1G>T
NM_000023.4(SGCA):c.391del (p.Leu131fs)	rs144356125
NM_000023.4(SGCA):c.402C>A (p.Tyr134Ter)	rs780264754
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)	rs780264754
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter)	rs886043221
NM_000023.4(SGCA):c.408del (p.Glu137fs)	rs1905103030
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)	rs372210292
NM_000023.4(SGCA):c.410A>G (p.Glu137Gly)	rs397514451
NM_000023.4(SGCA):c.464del (p.Ser155fs)	rs1555568775
NM_000023.4(SGCA):c.488del (p.Gly163fs)
NM_000023.4(SGCA):c.488dup (p.Leu164fs)	rs763986788
NM_000023.4(SGCA):c.524T>C (p.Val175Ala)	rs137852622
NM_000023.4(SGCA):c.550del (p.Arg184fs)
NM_000023.4(SGCA):c.585-2A>C	rs1555568965
NM_000023.4(SGCA):c.596del (p.Lys199fs)
NM_000023.4(SGCA):c.618_619del (p.Ser207fs)
NM_000023.4(SGCA):c.658_659del (p.Ala220fs)	rs1905167458
NM_000023.4(SGCA):c.676C>T (p.Gln226Ter)	rs1567741398
NM_000023.4(SGCA):c.70C>T (p.Gln24Ter)	rs2144493135
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)	rs200166783
NM_000023.4(SGCA):c.747+1G>A	rs886043392
NM_000023.4(SGCA):c.754_755del (p.Lys252fs)	rs1057517377
NM_000023.4(SGCA):c.770del (p.Pro257fs)	rs886043962
NM_000023.4(SGCA):c.790_791dup (p.Gly265fs)	rs1905254738
NM_000023.4(SGCA):c.801dup (p.Ile268fs)	rs1905256830
NM_000023.4(SGCA):c.828C>A (p.Cys276Ter)	rs2144500924
NM_000023.4(SGCA):c.834_837del (p.Thr279fs)
NM_000023.4(SGCA):c.862del (p.Val288fs)	rs2144501024
NM_000023.4(SGCA):c.86dup (p.His29fs)	rs1904986620
NM_000023.4(SGCA):c.904del (p.Leu302fs)	rs2144501172
NM_000023.4(SGCA):c.905T>G (p.Leu302Arg)	rs760989961
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs)	rs1555569329
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)	rs903823830
NM_000023.4(SGCA):c.957-1G>T	rs2144502043
NM_000023.4(SGCA):c.95T>C (p.Val32Ala)	rs1017592342
NM_000023.4(SGCA):c.981_982dup (p.Asp328fs)	rs796065318
SGCA, TYR134TER

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