List of variants in gene SETBP1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_015559.3(SETBP1):c.3956T>C (p.Met1319Thr)	rs372615623	0.00011
NM_015559.3(SETBP1):c.1388G>A (p.Arg463His)	rs781159539	0.00003
NM_015559.3(SETBP1):c.584C>T (p.Thr195Met)	rs755852977	0.00003
NM_015559.3(SETBP1):c.3055C>T (p.Arg1019Cys)	rs767260608	0.00002
NM_015559.3(SETBP1):c.144C>G (p.Ile48Met)	rs371516078	0.00001
NM_015559.3(SETBP1):c.3367A>C (p.Met1123Leu)	rs766776747	0.00001
NM_015559.3(SETBP1):c.4001-7T>A	rs767918557	0.00001
NM_015559.3(SETBP1):c.1021G>T (p.Asp341Tyr)	rs2071312042
NM_015559.3(SETBP1):c.1183A>C (p.Asn395His)	rs2071318761
NM_015559.3(SETBP1):c.1492C>T (p.Arg498Trp)	rs548105094
NM_015559.3(SETBP1):c.1936A>G (p.Met646Val)
NM_015559.3(SETBP1):c.1950G>T (p.Lys650Asn)	rs2145101918
NM_015559.3(SETBP1):c.2322A>G (p.Ala774=)	rs2145104146
NM_015559.3(SETBP1):c.2722G>A (p.Asp908Asn)
NM_015559.3(SETBP1):c.274T>A (p.Ser92Thr)
NM_015559.3(SETBP1):c.2903G>T (p.Arg968Ile)
NM_015559.3(SETBP1):c.2917A>T (p.Ser973Cys)	rs2071375286
NM_015559.3(SETBP1):c.3274C>T (p.Pro1092Ser)
NM_015559.3(SETBP1):c.3377G>T (p.Gly1126Val)
NM_015559.3(SETBP1):c.3436C>T (p.Arg1146Trp)	rs768536660
NM_015559.3(SETBP1):c.3652G>C (p.Gly1218Arg)
NM_015559.3(SETBP1):c.428G>A (p.Arg143His)
NM_015559.3(SETBP1):c.4580C>T (p.Pro1527Leu)
NM_015559.3(SETBP1):c.4732G>C (p.Glu1578Gln)	rs2073928489
NM_015559.3(SETBP1):c.4769G>C (p.Ser1590Thr)
NM_015559.3(SETBP1):c.773C>T (p.Ala258Val)
NM_015559.3(SETBP1):c.872C>T (p.Pro291Leu)	rs1447661395
NM_015559.3(SETBP1):c.927C>A (p.Asn309Lys)	rs199603131

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