ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
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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.386-1G>A rs913248720 0.00002
NM_000231.3(SGCG):c.342dup (p.Ala115fs) rs1262459682 0.00001
NM_000231.3(SGCG):c.385+2T>C rs200206447 0.00001
NM_000231.3(SGCG):c.559del (p.Asp187fs) rs1484553312 0.00001
NM_000231.3(SGCG):c.579-2A>G rs754415994 0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NC_000013.10:g.(?_23869544)_(23869636_?)dup
NM_000231.3(SGCG):c.-1+5G>A
NM_000231.3(SGCG):c.10G>T (p.Glu4Ter)
NM_000231.3(SGCG):c.133del (p.Ile45fs) rs1555234799
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro) rs781760379
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.196-1G>A
NM_000231.3(SGCG):c.216T>A (p.Cys72Ter)
NM_000231.3(SGCG):c.247G>T (p.Glu83Ter) rs1566011034
NM_000231.3(SGCG):c.253_254del (p.Glu85fs)
NM_000231.3(SGCG):c.260T>A (p.Leu87Ter)
NM_000231.3(SGCG):c.260T>G (p.Leu87Ter)
NM_000231.3(SGCG):c.284_287del (p.Ile95fs)
NM_000231.3(SGCG):c.298-2A>C rs1555240119
NM_000231.3(SGCG):c.298-2A>G
NM_000231.3(SGCG):c.302C>A (p.Ser101Ter)
NM_000231.3(SGCG):c.310dup (p.Leu104fs)
NM_000231.3(SGCG):c.361G>T (p.Glu121Ter)
NM_000231.3(SGCG):c.369dup (p.Gly124fs)
NM_000231.3(SGCG):c.385+1G>A
NM_000231.3(SGCG):c.385+2T>A rs200206447
NM_000231.3(SGCG):c.385+2T>G rs200206447
NM_000231.3(SGCG):c.386-2A>C rs886042757
NM_000231.3(SGCG):c.386-2A>G rs886042757
NM_000231.3(SGCG):c.450_456del (p.Leu150_Phe151insTer)
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter) rs1881865054
NM_000231.3(SGCG):c.533C>G (p.Ser178Ter) rs1011397929
NM_000231.3(SGCG):c.575T>G (p.Leu192Arg) rs1555245351
NM_000231.3(SGCG):c.578+1G>C rs1555245353
NM_000231.3(SGCG):c.578+1G>T
NM_000231.3(SGCG):c.579-1G>A
NM_000231.3(SGCG):c.579-1G>C
NM_000231.3(SGCG):c.580_584del
NM_000231.3(SGCG):c.581T>G (p.Leu194Ter) rs547818652
NM_000231.3(SGCG):c.591dup (p.Thr198fs) rs1555247973
NM_000231.3(SGCG):c.66T>A (p.Tyr22Ter) rs376410504
NM_000231.3(SGCG):c.684del (p.His229fs) rs2137528312
NM_000231.3(SGCG):c.690T>A (p.Ser230Arg) rs875989949
NM_000231.3(SGCG):c.702+1G>A rs1555248000
NM_000231.3(SGCG):c.702+1G>C rs1555248000
NM_000231.3(SGCG):c.721del (p.Thr241fs) rs1555248289
NM_000231.3(SGCG):c.727_728del (p.Cys243fs) rs758078849
NM_000231.3(SGCG):c.750dup (p.Thr251fs)
NM_000231.3(SGCG):c.758dup (p.Pro254fs)
NM_000231.3(SGCG):c.768del (p.Ser257fs) rs1199421806
NM_000231.3(SGCG):c.786C>G (p.Tyr262Ter)
NM_000231.3(SGCG):c.796del (p.Val266fs)
NM_000231.3(SGCG):c.800_801del (p.Cys267fs) rs780348174
NM_000231.3(SGCG):c.801_802del (p.Pro268fs) rs2137534216
NM_000231.3(SGCG):c.824_827del (p.Ser275fs) rs1361450354
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000231.3(SGCG):c.85dup (p.Tyr29fs)
NM_000231.3(SGCG):c.92G>A (p.Trp31Ter)

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