List of variants reported as pathogenic for X-linked disease by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000377.3(WAS):c.223G>A (p.Val75Met)	rs782290433	0.00001
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser)	rs587784299	0.00001
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg)	rs128624218
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)	rs61752992
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)	rs28934907
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)	rs61748404
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)	rs28934906
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	rs61749721
NM_001110792.2(MECP2):c.842del (p.Gly281fs)	rs61750241
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)	rs61751362
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)	rs28935468
NM_001353921.2(ARHGEF9):c.928_935del (p.Ser310fs)

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