ClinVar Miner

List of variants reported as likely pathogenic for Severe autosomal recessive muscular dystrophy of childhood - North African type

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Total variants: 23
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HGVS dbSNP
NM_000231.2(SGCG):c.133del (p.Ile45fs) rs1555234799
NM_000231.2(SGCG):c.186G>A (p.Trp62Ter) rs1555234810
NM_000231.2(SGCG):c.195+1G>C rs200502077
NM_000231.2(SGCG):c.195+4_195+7delAGTA rs797045106
NM_000231.2(SGCG):c.237_297+1165del
NM_000231.2(SGCG):c.247G>T (p.Glu83Ter) rs1566011034
NM_000231.2(SGCG):c.298-2A>C rs1555240119
NM_000231.2(SGCG):c.385+2T>A rs200206447
NM_000231.2(SGCG):c.385+2T>C
NM_000231.2(SGCG):c.386-1G>A rs913248720
NM_000231.2(SGCG):c.578+1G>C rs1555245353
NM_000231.2(SGCG):c.579-2A>G rs754415994
NM_000231.2(SGCG):c.581T>C (p.Leu194Ser) rs547818652
NM_000231.2(SGCG):c.591dup (p.Thr198fs) rs1555247973
NM_000231.2(SGCG):c.702+1G>A rs1555248000
NM_000231.2(SGCG):c.702+1G>C rs1555248000
NM_000231.2(SGCG):c.721del (p.Thr241fs) rs1555248289
NM_000231.2(SGCG):c.723_724TG[2] (p.Cys243fs) rs758078849
NM_000231.2(SGCG):c.752del (p.Thr251fs) rs886042749
NM_000231.2(SGCG):c.768del (p.Ser257fs) rs1199421806
NM_000231.2(SGCG):c.787G>A (p.Glu263Lys) rs104894423
NM_000231.2(SGCG):c.794_795GT[3] (p.Cys267fs) rs780348174
NM_000231.2(SGCG):c.848G>A (p.Cys283Tyr) rs104894422

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