List of variants studied for Hypomyelinating leukodystrophy 2; Lymphatic malformation 3; Hereditary spastic paraplegia 44

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_020435.4(GJC2):c.108C>T (p.Ile36=)	rs75469429	0.01203
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr)	rs200334298	0.00096
NM_020435.4(GJC2):c.400G>A (p.Gly134Ser)	rs1367568012	0.00005
NM_020435.4(GJC2):c.1162G>C (p.Gly388Arg)
NM_020435.4(GJC2):c.256G>A (p.Val86Ile)
NM_020435.4(GJC2):c.436_462del (p.Pro146_Glu154del)	rs779077705

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