List of variants reported for not specified by Molecular Diagnostics Lab, Nemours Children's Health, Delaware

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		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser)	rs61752387	0.00108
NM_005633.4(SOS1):c.749T>C (p.Val250Ala)	rs139290271	0.00054
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys)	rs143876280	0.00007
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu)	rs141140214	0.00006
NM_002180.3(IGHMBP2):c.1121T>C (p.Ile374Thr)	rs1193634362	0.00001
NM_002834.5(PTPN11):c.272A>G (p.Lys91Arg)	rs869312744	0.00001
NM_206937.2(LIG4):c.1345A>C (p.Lys449Gln)	rs758694012	0.00001
NM_000388.4(CASR):c.416T>C (p.Ile139Thr)	rs1060502860
NM_000388.4(CASR):c.513C>A (p.Ser171Arg)	rs764149433
NM_001110792.2(MECP2):c.1216_1251del (p.Glu406_Pro417del)	rs782746707
NM_001110792.2(MECP2):c.349A>C (p.Thr117Pro)	rs1060499623
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)	rs28934904
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)	rs61748404
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu)	rs754465226

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