List of variants reported as pathogenic for Hypomyelinating leukodystrophy 6 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_006087.4(TUBB4A):c.1164G>C (p.Met388Ile)	rs797045074
NM_006087.4(TUBB4A):c.1172G>A (p.Arg391His)	rs886041021
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys)	rs587777428
NM_006087.4(TUBB4A):c.286G>A (p.Gly96Arg)	rs1131691696
NM_006087.4(TUBB4A):c.568C>T (p.His190Tyr)	rs761635539
NM_006087.4(TUBB4A):c.5G>A (p.Arg2Gln)	rs587777467
NM_006087.4(TUBB4A):c.737T>C (p.Leu246Pro)
NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn)	rs483352809
NM_006087.4(TUBB4A):c.755A>G (p.Lys252Arg)
NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile)	rs767399782
NM_006087.4(TUBB4A):c.785G>A (p.Arg262His)	rs886039470
NM_006087.4(TUBB4A):c.941C>T (p.Ala314Val)	rs886041013

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