List of variants studied for argininosuccinic aciduria by Genome-Nilou Lab

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000048.4(ASL):c.656-102T>C	rs313828	0.76440
NM_000048.4(ASL):c.655+124A>G	rs313829	0.71689
NM_000048.4(ASL):c.978+63C>T	rs2460432	0.65407
NM_000048.4(ASL):c.12+105C>T	rs1183245	0.60874
NM_000048.4(ASL):c.602+13C>T	rs12536292	0.04315
NM_000048.4(ASL):c.1164C>T (p.His388=)	rs75300185	0.01380
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)	rs145138923	0.00120
NM_000048.4(ASL):c.392C>T (p.Thr131Met)	rs143793815	0.00042
NM_000048.4(ASL):c.1045G>A (p.Val349Ile)	rs372774556	0.00006
NM_000048.4(ASL):c.1165G>A (p.Glu389Lys)	rs1465800300	0.00002
NM_000048.4(ASL):c.243G>C (p.Leu81=)	rs774204716	0.00002
NM_000048.4(ASL):c.1063-57G>C	rs1167406
NM_000048.4(ASL):c.1095C>T (p.Ser365=)	rs749559501
NM_000048.4(ASL):c.231C>T (p.Gly77=)	rs2115694497
NM_000048.4(ASL):c.426del (p.Met143fs)	rs2115700686
NM_000048.4(ASL):c.530C>G (p.Ala177Gly)	rs2115725413
NM_000048.4(ASL):c.978+30C>T	rs160647

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