List of variants studied for leukodystrophy, hypomyelinating, 18

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_003676.4(DEGS1):c.517C>T (p.Arg173Ter)	rs932183417	0.00001
NM_003676.4(DEGS1):c.764A>G (p.Asn255Ser)	rs768180196	0.00001
NM_003676.4(DEGS1):c.110T>C (p.Met37Thr)	rs1388884067
NM_003676.4(DEGS1):c.250A>G (p.Met84Val)
NM_003676.4(DEGS1):c.2T>C (p.Met1Thr)
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.383A>T (p.His128Leu)
NM_003676.4(DEGS1):c.395A>G (p.His132Arg)	rs1558209997
NM_003676.4(DEGS1):c.397C>T (p.Arg133Trp)	rs1367958450
NM_003676.4(DEGS1):c.565A>G (p.Asn189Asp)	rs771864122
NM_003676.4(DEGS1):c.604del (p.Tyr202fs)	rs1558210191
NM_003676.4(DEGS1):c.775C>T (p.His259Tyr)
NM_003676.4(DEGS1):c.826-1G>A	rs1273116884
NM_003676.4(DEGS1):c.839C>T (p.Ala280Val)	rs1558211070
NM_003676.4(DEGS1):c.852_855del (p.Tyr283_Tyr284insTer)	rs2102658561
NM_003676.4(DEGS1):c.878G>A (p.Trp293Ter)	rs1572045183
Single allele

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