List of variants studied for Hao-Fountain syndrome by Human Genetics Laboratory, Amsterdam University Medical Center

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NC_000016.9:g.(?_8160554)_(9074348_?)del
NM_003470.3(USP7):c.1091T>A (p.Phe364Tyr)	rs2549235519
NM_003470.3(USP7):c.1258A>G (p.Lys420Glu)	rs2549232757
NM_003470.3(USP7):c.1297C>A (p.Leu433Ile)	rs2549230941
NM_003470.3(USP7):c.1691A>C (p.Tyr564Ser)	rs1244772203
NM_003470.3(USP7):c.1754A>T (p.Asp585Val)	rs1480900512
NM_003470.3(USP7):c.2132_2140+9del	rs2549223409
NM_003470.3(USP7):c.2232_2235del (p.Arg745fs)	rs2549222611
NM_003470.3(USP7):c.3043G>A (p.Glu1015Lys)	rs2549212988
NM_003470.3(USP7):c.352T>C (p.Phe118Leu)	rs2141215483
NM_003470.3(USP7):c.713T>G (p.Leu238Arg)	rs2549244890
NM_003470.3(USP7):c.721-1G>C	rs2549242612
NM_003470.3(USP7):c.884A>G (p.Asp295Gly)	rs2549241840
NM_003470.3(USP7):c.992A>G (p.Tyr331Cys)	rs2549240624

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