List of variants reported as uncertain significance for Schinzel-Giedion syndrome

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Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_015559.3(SETBP1):c.1932C>T (p.Ser644=)	rs3744824	0.00067
NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=)	rs574196735	0.00066
NM_015559.3(SETBP1):c.*1377G>A	rs886053804	0.00016
NM_015559.3(SETBP1):c.46G>A (p.Glu16Lys)	rs587784381	0.00016
NM_015559.3(SETBP1):c.1223C>G (p.Ala408Gly)	rs587784380	0.00004
NM_015559.3(SETBP1):c.1503C>T (p.Pro501=)	rs374300895	0.00004
NM_015559.3(SETBP1):c.3832C>G (p.Leu1278Val)	rs751429016	0.00002
NM_015559.3(SETBP1):c.665G>C (p.Trp222Ser)	rs761385178	0.00002
NM_015559.3(SETBP1):c.165G>A (p.Met55Ile)	rs778818507	0.00001
NM_015559.3(SETBP1):c.1643_1647del	rs370951422
NM_015559.3(SETBP1):c.2063_2066del	rs886053806
NM_015559.3(SETBP1):c.2970_2971insT	rs886053809
NM_015559.3(SETBP1):c.*2971del	rs886053810
NM_015559.3(SETBP1):c.*2987dup	rs34125334
NM_015559.3(SETBP1):c.*2988del	rs886053812
NM_015559.3(SETBP1):c.*745dup	rs368699262
NM_015559.3(SETBP1):c.-241dup	rs886053786
NM_015559.3(SETBP1):c.2111C>T (p.Ala704Val)	rs1599367870
NM_015559.3(SETBP1):c.2358C>T (p.Ser786=)	rs886053793
NM_015559.3(SETBP1):c.2825G>C (p.Arg942Pro)
NM_015559.3(SETBP1):c.2917A>T (p.Ser973Cys)	rs2071375286
NM_015559.3(SETBP1):c.3825A>C (p.Ser1275=)	rs8096662
NM_015559.3(SETBP1):c.3825A>T (p.Ser1275=)	rs8096662
NM_015559.3(SETBP1):c.4438G>A (p.Asp1480Asn)
NM_015559.3(SETBP1):c.4666A>C (p.Lys1556Gln)

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