List of variants studied for leukodystrophy, hypomyelinating, 18 by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_003676.4(DEGS1):c.764A>G (p.Asn255Ser)	rs768180196	0.00001
NM_003676.4(DEGS1):c.320G>A (p.Trp107Ter)	rs1382083552
NM_003676.4(DEGS1):c.337A>G (p.Asn113Asp)	rs1280845604
NM_003676.4(DEGS1):c.341_342del (p.Leu114fs)	rs1558209947
NM_003676.4(DEGS1):c.395A>G (p.His132Arg)	rs1558209997
NM_003676.4(DEGS1):c.604del (p.Tyr202fs)	rs1558210191
NM_003676.4(DEGS1):c.839C>T (p.Ala280Val)	rs1558211070

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