List of variants in gene SLURP1 reported as uncertain significance for mal de Meleda

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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: 13

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HGVS	dbSNP	gnomAD frequency
NM_020427.3(SLURP1):c.-7C>T	rs201610070	0.00067
NM_020427.3(SLURP1):c.179-3C>T	rs371317832	0.00016
NM_020427.3(SLURP1):c.202G>A (p.Val68Met)	rs145660272	0.00013
NM_020427.3(SLURP1):c.141C>T (p.Asp47=)	rs757855735	0.00006
NM_020427.3(SLURP1):c.*10G>A	rs201974695	0.00004
NM_020427.3(SLURP1):c.10C>T (p.Arg4Cys)	rs267601807	0.00004
NM_020427.3(SLURP1):c.125G>A (p.Arg42His)	rs142285553	0.00003
NM_020427.3(SLURP1):c.158C>T (p.Thr53Met)	rs752253252	0.00003
NM_020427.3(SLURP1):c.*146G>A	rs587600192	0.00002
NM_020427.3(SLURP1):c.167C>T (p.Thr56Met)	rs587771241	0.00001
NM_020427.3(SLURP1):c.47G>T (p.Ser16Ile)	rs775418598	0.00001
NM_020427.3(SLURP1):c.*14G>A	rs886062732
NM_020427.3(SLURP1):c.211C>T (p.Arg71Cys)

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