ClinVar Miner

List of variants studied for autosomal recessive limb-girdle muscular dystrophy type 2C by Counsyl

Included ClinVar conditions (1):
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_000231.3(SGCG):c.195+1G>C rs200502077 0.00004
NM_000231.3(SGCG):c.196-6195C>T rs207473592 0.00002
NM_000231.3(SGCG):c.386-1G>A rs913248720 0.00002
NM_000231.3(SGCG):c.579-2A>G rs754415994 0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_000231.2(SGCG):c.[800G>C;801T>C]
NM_000231.3(SGCG):c.133del (p.Ile45fs) rs1555234799
NM_000231.3(SGCG):c.186G>A (p.Trp62Ter) rs1555234810
NM_000231.3(SGCG):c.195+4_195+7del rs797045106
NM_000231.3(SGCG):c.298-2A>C rs1555240119
NM_000231.3(SGCG):c.385+2T>A rs200206447
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000231.3(SGCG):c.578+1G>C rs1555245353
NM_000231.3(SGCG):c.591dup (p.Thr198fs) rs1555247973
NM_000231.3(SGCG):c.702+1G>A rs1555248000
NM_000231.3(SGCG):c.714_719del (p.Asp238_Ala239del) rs1555248287
NM_000231.3(SGCG):c.721del (p.Thr241fs) rs1555248289
NM_000231.3(SGCG):c.727_728del (p.Cys243fs) rs758078849
NM_000231.3(SGCG):c.768del (p.Ser257fs) rs1199421806
NM_000231.3(SGCG):c.800_801del (p.Cys267fs) rs780348174

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