List of variants reported as uncertain significance for Autosomal recessive limb-girdle muscular dystrophy type 2O by Illumina Laboratory Services, Illumina

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Total variants: 38

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HGVS	dbSNP	gnomAD frequency
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)	rs74374973	0.00994
NM_017739.4(POMGNT1):c.-11G>A	rs80107141	0.00484
NM_017739.4(POMGNT1):c.120+13C>T	rs12737140	0.00459
NM_017739.4(POMGNT1):c.*221G>A	rs181362801	0.00374
NM_017739.4(POMGNT1):c.*451C>T	rs148903585	0.00364
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile)	rs17102066	0.00264
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)	rs150576537	0.00250
NM_017739.4(POMGNT1):c.236-13T>C	rs150578902	0.00196
NM_017739.4(POMGNT1):c.*34G>A	rs200540049	0.00076
NM_017739.4(POMGNT1):c.421-7C>A	rs189274856	0.00049
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=)	rs138330966	0.00034
NM_017739.4(POMGNT1):c.420G>A (p.Thr140=)	rs146237009	0.00014
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=)	rs146933218	0.00012
NM_017739.4(POMGNT1):c.752-15G>A	rs368317059	0.00011
NM_017739.4(POMGNT1):c.-141A>G	rs886046387	0.00009
NM_017739.4(POMGNT1):c.38T>C (p.Phe13Ser)	rs377724143	0.00006
NM_017739.4(POMGNT1):c.129C>T (p.Ala43=)	rs138950267	0.00005
NM_017739.4(POMGNT1):c.1540-6C>T	rs770449394	0.00005
NM_017739.4(POMGNT1):c.1738C>A (p.Arg580=)	rs386834018	0.00003
NM_017739.4(POMGNT1):c.46C>T (p.Arg16Trp)	rs34058684	0.00003
NM_017739.4(POMGNT1):c.698C>T (p.Ser233Phe)	rs569061665	0.00003
NM_017739.4(POMGNT1):c.277A>G (p.Ser93Gly)	rs751402236	0.00002
NM_017739.4(POMGNT1):c.-64G>A	rs927602645	0.00001
NM_017739.4(POMGNT1):c.1482C>T (p.Asp494=)	rs769213562	0.00001
NM_017739.4(POMGNT1):c.250C>T (p.Arg84Cys)	rs1238403887	0.00001
NM_017739.4(POMGNT1):c.813A>C (p.Lys271Asn)	rs757156888	0.00001
NM_017739.4(POMGNT1):c.862G>A (p.Glu288Lys)	rs1476814352	0.00001
NM_017739.4(POMGNT1):c.959G>T (p.Arg320Leu)	rs368653589	0.00001
NM_017739.4(POMGNT1):c.*207G>A	rs1657534329
NM_017739.4(POMGNT1):c.-144C>T	rs1571674193
NM_017739.4(POMGNT1):c.1007T>C (p.Phe336Ser)	rs886046385
NM_017739.4(POMGNT1):c.121-6C>A	rs558052679
NM_017739.4(POMGNT1):c.121A>G (p.Thr41Ala)	rs886046386
NM_017739.4(POMGNT1):c.1285-2A>G	rs386834012
NM_017739.4(POMGNT1):c.1698C>T (p.Phe566=)	rs1657621738
NM_017739.4(POMGNT1):c.1878C>T (p.Val626=)	rs1657570765
NM_017739.4(POMGNT1):c.1889C>G (p.Pro630Arg)	rs747723242
NM_017739.4(POMGNT1):c.287G>A (p.Arg96Gln)	rs200227264

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