ClinVar Miner

List of variants studied for autosomal recessive limb-girdle muscular dystrophy type 2A by 3billion

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491 0.00005
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544 0.00002
NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter) rs768090444 0.00002
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val) rs886042557 0.00001
NM_000070.3(CAPN3):c.379+3A>G rs1164215001 0.00001
NM_000070.3(CAPN3):c.1524+1G>T rs1275289254
NM_000070.3(CAPN3):c.1536G>C (p.Glu512Asp)
NM_000070.3(CAPN3):c.1561C>T (p.Gln521Ter) rs2053910936
NM_000070.3(CAPN3):c.1936C>T (p.Gln646Ter) rs2054129122
NM_000070.3(CAPN3):c.202T>C (p.Cys68Arg) rs2141102622
NM_000070.3(CAPN3):c.2115+4T>G rs752436906
NM_000070.3(CAPN3):c.2312C>T (p.Ala771Val) rs752397587
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter) rs121434545
NM_000070.3(CAPN3):c.332T>G (p.Phe111Cys)
NM_000070.3(CAPN3):c.352A>G (p.Arg118Gly) rs1566973583
NM_000070.3(CAPN3):c.379G>A (p.Gly127Arg) rs2548252820
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.608C>T (p.Ala203Val) rs763719290
NM_000070.3(CAPN3):c.749A>G (p.Lys250Arg) rs779939785

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