List of variants reported as pathogenic for hypomyelinating leukodystrophy 9 by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu)	rs139644798	0.00044
NM_002887.4(RARS1):c.1A>G (p.Met1Val)	rs672601375	0.00004
NM_002887.4(RARS1):c.5A>G (p.Asp2Gly)	rs672601372	0.00003
NM_002887.4(RARS1):c.1535G>A (p.Arg512Gln)	rs369398935	0.00002
NM_002887.4(RARS1):c.1846_1847del (p.Tyr616fs)	rs1064792894
NM_002887.4(RARS1):c.45+1G>T	rs672601373
NM_002887.4(RARS1):c.96_97del (p.Cys32fs)	rs672601374

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