ClinVar Miner

List of variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2A by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln) rs121434548 0.00006
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491 0.00005
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879 0.00004
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942 0.00003
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) rs863224956 0.00001
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly) rs750083132 0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583 0.00001
NM_000070.3(CAPN3):c.358G>A (p.Asp120Asn) rs765935351 0.00001
NM_000070.3(CAPN3):c.769G>A (p.Glu257Lys) rs1368398872 0.00001
NM_000070.3(CAPN3):c.1183G>A (p.Gly395Arg) rs1595831427
NM_000070.3(CAPN3):c.1298_1299del (p.Val433fs) rs1293496023
NM_000070.3(CAPN3):c.1502C>T (p.Thr501Ile) rs751104396
NM_000070.3(CAPN3):c.1743dup (p.Glu582Ter)
NM_000070.3(CAPN3):c.1910dup (p.Gln638fs) rs2548288015
NM_000070.3(CAPN3):c.1914G>A (p.Gln638=) rs2548288041
NM_000070.3(CAPN3):c.1963del (p.Arg655fs) rs1566984441
NM_000070.3(CAPN3):c.2051-1G>T rs886042108
NM_000070.3(CAPN3):c.2235C>G (p.Tyr745Ter)
NM_000070.3(CAPN3):c.2302A>G (p.Met768Val) rs2548294398
NM_000070.3(CAPN3):c.2333_2336dup (p.Phe779fs) rs2548294490
NM_000070.3(CAPN3):c.2387T>C (p.Phe796Ser) rs2548295609
NM_000070.3(CAPN3):c.304C>T (p.Pro102Ser) rs2141102957
NM_000070.3(CAPN3):c.632A>G (p.Lys211Arg)
NM_000070.3(CAPN3):c.689A>G (p.Asp230Gly) rs1555420629
NM_000070.3(CAPN3):c.728_762dup (p.Ala255delinsMetLeuLeuValThrCysThrArgSerTer) rs2548260430
NM_000070.3(CAPN3):c.793T>C (p.Ser265Pro) rs2053485355

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