List of variants in gene SLURP1 reported as pathogenic for Acroerythrokeratoderma

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_020427.3(SLURP1):c.82del (p.Cys28fs)	rs587776601	0.00007
NM_020427.3(SLURP1):c.43T>C (p.Trp15Arg)	rs121908318	0.00006
NM_020427.3(SLURP1):c.211C>T (p.Arg71Cys)	rs1051064544	0.00003
NM_020427.3(SLURP1):c.256G>A (p.Gly86Arg)	rs28937888	0.00003
NM_020427.3(SLURP1):c.286C>T (p.Arg96Ter)	rs121908317	0.00001
NM_020427.3(SLURP1):c.296G>A (p.Cys99Tyr)	rs121908320	0.00001
C73del
E60K
NM_020427.3(SLURP1):c.178+1G>A	rs587776602
NM_020427.3(SLURP1):c.1A>C (p.Met1Leu)	rs28937889
NM_020427.3(SLURP1):c.229T>C (p.Cys77Arg)	rs121908319
NM_020427.3(SLURP1):c.243C>A (p.Asp81Glu)	rs2488555660
NM_020427.3(SLURP1):c.256G>C (p.Gly86Arg)	rs28937888
NM_020427.3(SLURP1):c.280T>A (p.Cys94Ser)
P82S

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