List of variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2O by Genome-Nilou Lab

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val)	rs6659553	0.94881
NM_017739.4(POMGNT1):c.1027-44A>G	rs7527668	0.37971
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=)	rs2292487	0.34915
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)	rs74374973	0.00994
NM_017739.4(POMGNT1):c.1539+1G>A	rs138642840	0.00034
NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val)	rs199534074	0.00004
NM_017739.4(POMGNT1):c.440G>A (p.Arg147His)	rs776165339	0.00003
NM_017739.4(POMGNT1):c.1721C>T (p.Thr574Ile)	rs556069604	0.00001
NM_017739.4(POMGNT1):c.793C>T (p.Arg265Cys)	rs774752168	0.00001
NM_017739.4(POMGNT1):c.799C>T (p.Arg267Cys)	rs148131756	0.00001
NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser)	rs754653320	0.00001
NM_017739.4(POMGNT1):c.*457C>T	rs1657513729
NM_017739.4(POMGNT1):c.1117A>C (p.Lys373Gln)	rs752591703
NM_017739.4(POMGNT1):c.1681C>T (p.Pro561Ser)	rs2148167563
NM_017739.4(POMGNT1):c.226C>A (p.Gln76Lys)	rs972657462
NM_017739.4(POMGNT1):c.722A>G (p.Lys241Arg)	rs2148202208

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