List of variants studied for Pelizaeus-Merzbacher-like disease by Fulgent Genetics, Fulgent Genetics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_020435.4(GJC2):c.108C>T (p.Ile36=)	rs75469429	0.01203
NM_002156.5(HSPD1):c.561T>C (p.Ser187=)	rs141357756	0.00155
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr)	rs200334298	0.00096
NM_001142416.2(AIMP1):c.267_282del (p.Asn89fs)
NM_002156.5(HSPD1):c.299A>T (p.Asp100Val)
NM_002156.5(HSPD1):c.445G>C (p.Asp149His)	rs781225976
NM_020435.4(GJC2):c.1162G>C (p.Gly388Arg)
NM_020435.4(GJC2):c.400G>A (p.Gly134Ser)

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