List of variants studied for Hypomyelinating leukodystrophy 9 by Revvity Omics, Revvity

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_002887.4(RARS1):c.1452+12C>A	rs747204598	0.00004
NM_002887.4(RARS1):c.1522C>A (p.Leu508Ile)	rs199566565	0.00002
NM_002887.4(RARS1):c.1535G>T (p.Arg512Leu)	rs369398935
NM_002887.4(RARS1):c.614_615del (p.Lys205fs)	rs1422385923
NM_002887.4(RARS1):c.847G>A (p.Glu283Lys)	rs2533375558

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