List of variants reported as likely pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2C by Fulgent Genetics, Fulgent Genetics

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000231.3(SGCG):c.386-1G>A	rs913248720	0.00002
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)	rs547818652	0.00001
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)	rs104894422	0.00001
NM_000231.3(SGCG):c.249dup (p.Ser84fs)
NM_000231.3(SGCG):c.320C>T (p.Ser107Leu)
NM_000231.3(SGCG):c.361G>T (p.Glu121Ter)	rs1013988350
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter)	rs1881865054
NM_000231.3(SGCG):c.578+1G>C	rs1555245353
NM_000231.3(SGCG):c.579-2A>G	rs754415994
NM_000231.3(SGCG):c.61C>T (p.Gln21Ter)

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