List of variants reported as pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2Y by Invitae

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_015602.4(TOR1AIP1):c.149C>A (p.Ser50Ter)	rs374232191	0.00001
NM_015602.4(TOR1AIP1):c.646G>T (p.Glu216Ter)	rs778326858	0.00001
NC_000001.11:g.(?_179882503)_(179904022_?)del
NM_015602.4(TOR1AIP1):c.11_17del (p.Asp4fs)	rs1647734130
NM_015602.4(TOR1AIP1):c.189dup (p.Pro64fs)	rs1193188647
NM_015602.4(TOR1AIP1):c.343C>T (p.Arg115Ter)	rs2148468809
NM_015602.4(TOR1AIP1):c.349C>T (p.Gln117Ter)	rs2148468818
NM_015602.4(TOR1AIP1):c.379del (p.Thr127fs)	rs2148468861
NM_015602.4(TOR1AIP1):c.583C>T (p.Arg195Ter)
NM_015602.4(TOR1AIP1):c.663del (p.Glu222fs)	rs1648457474
NM_015602.4(TOR1AIP1):c.763C>T (p.Gln255Ter)	rs1648544786
NM_015602.4(TOR1AIP1):c.830C>G (p.Ser277Ter)	rs2148480016

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