List of variants reported as pathogenic for FG syndrome 1 by Invitae

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NC_000023.10:g.(?_70337406)_(70363304_?)del
NM_005120.3(MED12):c.1924_1974+17dup
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)	rs80338758
NM_005120.3(MED12):c.3488dup (p.Asp1164fs)
NM_005120.3(MED12):c.3884G>A (p.Arg1295His)	rs1556337063
NM_005120.3(MED12):c.4070G>A (p.Arg1357His)	rs2147811858
NM_005120.3(MED12):c.887G>A (p.Arg296Gln)	rs1556334519

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