List of variants studied for X-linked disease by Clinical Genomics Program, Stanford Medicine

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	rs104886142	0.00005
NM_001111125.3(IQSEC2):c.4459G>A (p.Val1487Met)	rs1064796639	0.00002
NM_000489.6(ATRX):c.3649G>A (p.Gly1217Ser)
NM_001039591.3(USP9X):c.172C>T (p.Pro58Ser)	rs1384577833
NM_001039591.3(USP9X):c.4135_4136del (p.Leu1379fs)
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del)	rs1555954380
NM_001830.4(CLCN4):c.1646T>C (p.Ile549Thr)	rs1924631837
NM_003336.4(UBE2A):c.330+1G>A	rs2053457643
NM_004606.5(TAF1):c.2700+5A>G	rs2034394782
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs)	rs794727881

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