List of variants in gene SETBP1 reported as pathogenic for ectodermal dysplasia syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn)	rs267607042	0.00001
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)	rs267607038	0.00001
NM_015559.3(SETBP1):c.1821del (p.Ser608fs)	rs797045952
NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter)	rs606231272
NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter)	rs606231273
NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys)	rs1178702025
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His)	rs267607042
NM_015559.3(SETBP1):c.2603A>C (p.Asp868Ala)	rs267607041
NM_015559.3(SETBP1):c.2607C>G (p.Ser869Arg)
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser)	rs267607040
NM_015559.3(SETBP1):c.2608G>T (p.Gly870Cys)
NM_015559.3(SETBP1):c.2609G>A (p.Gly870Asp)	rs267607039
NM_015559.3(SETBP1):c.2612T>G (p.Ile871Ser)	rs267607038

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