ClinVar Miner

List of variants reported as pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2D

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 91
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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.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.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_000023.4(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.377dup (p.Asp126fs) rs1905070544
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.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.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
NM_001135697.3(SGCA):c.584+521del rs1220674950
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) rs587784483
SGCA, TYR134TER

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