List of variants in gene SGCA reported as benign 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: 19

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HGVS	dbSNP	gnomAD frequency
NM_000023.4(SGCA):c.37+66C>T	rs9911548	0.99075
NM_000023.4(SGCA):c.*6T>C	rs2696288	0.91073
NM_000023.4(SGCA):c.312+83C>T	rs2696297	0.83281
NM_000023.4(SGCA):c.385+167A>G	rs11868160	0.16228
NM_000023.4(SGCA):c.313-39C>A	rs59944537	0.14899
NM_000023.4(SGCA):c.933C>T (p.Val311=)	rs1801191	0.08920
NM_000023.4(SGCA):c.37+23G>A	rs79410682	0.04614
NM_000023.4(SGCA):c.528C>T (p.Thr176=)	rs1801190	0.00912
NM_000023.4(SGCA):c.*10C>G	rs60300808	0.00619
NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys)	rs35495899	0.00555
NM_000023.4(SGCA):c.-8G>A	rs149296410	0.00248
NM_000023.4(SGCA):c.158-11G>A	rs140261054	0.00157
NM_000023.4(SGCA):c.843C>A (p.Ala281=)	rs149487996	0.00080
NM_000023.4(SGCA):c.366G>A (p.Leu122=)	rs147739328	0.00075
NM_000023.4(SGCA):c.662G>A (p.Arg221His)	rs138254713	0.00027
NM_000023.4(SGCA):c.80C>T (p.Thr27Met)	rs565069721	0.00001
NM_000023.4(SGCA):c.38-46G>C	rs142537375
NM_000023.4(SGCA):c.386-16del	rs556088617
NM_000023.4(SGCA):c.983+22del

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