ClinVar Miner

List of variants in gene CAPN3 reported by Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
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.2230A>G (p.Ser744Gly) rs750083132 0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583 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.1910dup (p.Gln638fs)
NM_000070.3(CAPN3):c.1914G>A (p.Gln638=)
NM_000070.3(CAPN3):c.2051-1G>T rs886042108
NM_000070.3(CAPN3):c.2302A>G (p.Met768Val)
NM_000070.3(CAPN3):c.2319dup (p.His774fs)
NM_000070.3(CAPN3):c.2333_2336dup (p.Phe779fs)
NM_000070.3(CAPN3):c.2387T>C (p.Phe796Ser)
NM_000070.3(CAPN3):c.689A>G (p.Asp230Gly) rs1555420629
NM_000070.3(CAPN3):c.728_762dup (p.Ala255delinsMetLeuLeuValThrCysThrArgSerTer)
NM_000070.3(CAPN3):c.793T>C (p.Ser265Pro) rs2053485355

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