List of variants reported as benign for oligosaccharidosis by Genome-Nilou Lab

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Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_000027.4(AGA):c.699-25G>C	rs4690521	0.98895
NM_000027.4(AGA):c.446C>G (p.Thr149Ser)	rs2228119	0.92759
NM_000528.4(MAN2B1):c.2267+63A>G	rs3815914	0.66212
NM_000308.4(CTSA):c.693-33A>G	rs4810476	0.65662
NM_000308.4(CTSA):c.1088+10C>T	rs4608591	0.65654
NM_000308.4(CTSA):c.948+7G>A	rs2075961	0.65493
NM_000027.4(AGA):c.941-84C>G	rs3805167	0.65485
NM_000262.3(NAGA):c.279G>A (p.Pro93=)	rs133369	0.64950
NM_000027.4(AGA):c.127+25C>T	rs11131799	0.60222
NM_005908.4(MANBA):c.2015-28G>A	rs4547797	0.55331
NM_005908.4(MANBA):c.2368T>C (p.Leu790=)	rs2272697	0.55313
NM_000528.4(MAN2B1):c.1310-22C>T	rs73002392	0.50963
NM_000528.4(MAN2B1):c.910-73A>G	rs2303731	0.40412
NM_005908.4(MANBA):c.757G>A (p.Val253Ile)	rs227368	0.39095
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln)	rs1133330	0.34583
NM_000308.4(CTSA):c.1359+35G>A	rs7270170	0.34309
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val)	rs1054486	0.30800
NM_000262.3(NAGA):c.598-15C>T	rs2854827	0.21339
NM_000027.4(AGA):c.281+13T>G	rs34241758	0.19395
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser)	rs35836657	0.08930
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser)	rs34544747	0.07202
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=)	rs117880912	0.00217
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=)	rs148108322	0.00175
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del)	rs72555383
NM_000308.4(CTSA):c.870-15del	rs3215446
NM_000528.4(MAN2B1):c.2665-165G>C	rs2145222928
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile)	rs1054487
NM_005908.4(MANBA):c.1705-13C>A	rs34754408
NM_005908.4(MANBA):c.2102C>T (p.Thr701Met)	rs2866413
NM_005908.4(MANBA):c.2416-10del	rs5860729

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