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

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.2380+19C>T	rs141234995	0.00053
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr)	rs138867099	0.00031
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)	rs141656719	0.00015
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr)	rs747026964	0.00015
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln)	rs376107921	0.00013
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)	rs200379491	0.00005
NM_000070.3(CAPN3):c.1557C>T (p.His519=)	rs368385372	0.00004
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp)	rs863224959	0.00004
NM_000070.3(CAPN3):c.2184+3G>A	rs771917810	0.00004
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu)	rs794727895
NM_000070.3(CAPN3):c.2050+1G>A	rs768374736
NM_000070.3(CAPN3):c.290dup (p.Val98fs)	rs1595794433
NM_000070.3(CAPN3):c.59del (p.Pro20fs)	rs1555417271
NM_000070.3(CAPN3):c.793T>G (p.Ser265Ala)	rs2053485355

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