List of variants in gene SGCD reported as likely pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2F

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000337.6(SGCD):c.4-1G>A	rs1554094927	0.00001
NC_000005.9:g.(?_156016221)_(156022081_?)dup
NC_000005.9:g.(?_156074454)_(156074566_?)dup
NM_000337.6(SGCD):c.192+1G>A	rs1267810339
NM_000337.6(SGCD):c.208_210delinsGT (p.Leu70fs)
NM_000337.6(SGCD):c.294+1G>A	rs727503422
NM_000337.6(SGCD):c.390del (p.Ala131fs)	rs397517921
NM_000337.6(SGCD):c.4-1G>C
NM_000337.6(SGCD):c.4-1G>T	rs1554094927
NM_000337.6(SGCD):c.502+2T>C
NM_000337.6(SGCD):c.576-1G>C	rs2113176852
NM_000337.6(SGCD):c.618del (p.Gly207fs)	rs1554137109
NM_000337.6(SGCD):c.663C>A (p.Cys221Ter)	rs1175344271
NM_000337.6(SGCD):c.699+1G>T	rs1554137130
NM_000337.6(SGCD):c.69C>A (p.Tyr23Ter)	rs397517923

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