List of variants reported as uncertain significance for Hypomyelinating leukodystrophy 10

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_013328.4(PYCR2):c.67+6C>A	rs1015928060	0.00004
NM_013328.4(PYCR2):c.160C>T (p.Arg54Cys)	rs149894811	0.00001
NM_013328.4(PYCR2):c.319-1G>C	rs1450223894	0.00001
NM_013328.4(PYCR2):c.40G>C (p.Ala14Pro)	rs1210762206	0.00001
NM_013328.4(PYCR2):c.50G>C (p.Arg17Pro)
NM_013328.4(PYCR2):c.529G>A (p.Gly177Arg)	rs1239964151
NM_013328.4(PYCR2):c.559G>A (p.Ala187Thr)
NM_013328.4(PYCR2):c.678G>T (p.Gln226His)	rs1671830683
NM_013328.4(PYCR2):c.748T>G (p.Phe250Val)
NM_013328.4(PYCR2):c.752G>A (p.Arg251His)

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