ClinVar Miner

List of variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2A by Athena Diagnostics

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.2380+12del rs28364538 0.04623
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128 0.00018
NM_000070.3(CAPN3):c.499-1G>A rs863224964 0.00005
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp) rs863224959 0.00004
NM_000070.3(CAPN3):c.1939G>T (p.Glu647Ter) rs863224960 0.00003
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544 0.00002
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro) rs758795961 0.00002
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) rs774048743 0.00001
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer) rs762471207 0.00001
NM_000070.3(CAPN3):c.2381-2A>G rs863224962
NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs) rs863224966

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