List of variants in gene SGCA reported as uncertain significance for Sarcoglycanopathy

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

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_000023.4(SGCA):c.158-11G>A	rs140261054	0.00157
NM_000023.4(SGCA):c.690G>C (p.Leu230=)	rs139454982	0.00049
NM_000023.4(SGCA):c.-31T>C	rs199527818	0.00026
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg)	rs201131924	0.00024
NM_000023.4(SGCA):c.929A>G (p.Tyr310Cys)	rs145252144	0.00016
NM_000023.4(SGCA):c.-19C>T	rs969341162	0.00013
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp)	rs200137051	0.00013
NM_000023.4(SGCA):c.1051C>T (p.Arg351Cys)	rs143365858	0.00009
NM_000023.4(SGCA):c.764C>T (p.Pro255Leu)	rs138019537	0.00009
NM_000023.4(SGCA):c.1063C>T (p.Arg355Trp)	rs766855169	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.307A>G (p.Ile103Val)	rs370819630	0.00003
NM_000023.4(SGCA):c.312+5C>T	rs377006294	0.00002
NM_000023.4(SGCA):c.-18G>A	rs115380008	0.00001
NM_000023.4(SGCA):c.-28C>T	rs754969463	0.00001
NM_000023.4(SGCA):c.485G>A (p.Gly162Glu)	rs954971361	0.00001
NM_000023.4(SGCA):c.488G>C (p.Gly163Ala)	rs1356585975	0.00001
NM_000023.4(SGCA):c.555C>A (p.Val185=)	rs201518390	0.00001
NM_000023.4(SGCA):c.-5C>G	rs776195527
NM_000023.4(SGCA):c.158-10C>G	rs746675022
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)	rs780264754
NM_000023.4(SGCA):c.690G>A (p.Leu230=)	rs139454982
NM_000023.4(SGCA):c.956+7G>A	rs1598270831
NM_000023.4(SGCA):c.958C>T (p.Leu320=)	rs1905303889

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