ClinVar Miner

List of variants studied for Hypomyelinating leukodystrophy 10 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_013328.4(PYCR2):c.160C>T (p.Arg54Cys)	rs149894811	0.00001
NM_013328.4(PYCR2):c.529G>A (p.Gly177Arg)	rs1239964151

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