List of variants studied for Acrocephalosyndactyly type I

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Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000141.5(FGFR2):c.*736dup	rs886046762	0.00005
NM_000141.5(FGFR2):c.1498_1502del	rs566259479
NM_000141.5(FGFR2):c.*197del	rs748777325
NM_000141.5(FGFR2):c.641_644del	rs548465887
NM_000141.5(FGFR2):c.-298_-297dup	rs41301549
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)	rs121918491
NM_000141.5(FGFR2):c.1061C>T (p.Ser354Phe)	rs121918490
NM_000141.5(FGFR2):c.110-22TC[3]	rs773932794
NM_000141.5(FGFR2):c.1960A>G (p.Ile654Val)	rs747718232
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)	rs79184941
NM_000141.5(FGFR2):c.755_756delinsTT (p.Ser252Phe)	rs121918498
NM_000141.5(FGFR2):c.756_758delinsCTT (p.Pro253Phe)	rs387907372
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)	rs77543610
NM_000141.5(FGFR2):c.758C>T (p.Pro253Leu)	rs77543610
NM_000141.5(FGFR2):c.940-2A>C	rs1057519041
NM_000141.5:c.1040_1041ins[N[360];1026_1040]
NM_000141.5:c.940-19_940-18insAlu

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