ClinVar Miner

List of variants in gene SLURP1 reported as uncertain significance for diffuse palmoplantar keratoderma

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_020427.3(SLURP1):c.-7C>T rs201610070 0.00067
NM_020427.3(SLURP1):c.202G>A (p.Val68Met) rs145660272 0.00013
NM_020427.3(SLURP1):c.179-3C>T rs371317832 0.00010
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

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