ClinVar Miner

List of variants in gene SLURP1 studied for Acroerythrokeratoderma

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_020427.3(SLURP1):c.261C>T (p.Ala87=) rs62636564 0.01928
NM_020427.3(SLURP1):c.*143G>A rs182887603 0.00469
NM_020427.3(SLURP1):c.310T>C (p.Ter104Arg) rs62636565 0.00168
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 0.00014
NM_020427.3(SLURP1):c.167C>T (p.Thr56Met) rs587771241 0.00011
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.141C>T (p.Asp47=) rs757855735 0.00005
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 0.00004
NM_020427.3(SLURP1):c.*146G>A rs587600192 0.00003
NM_020427.3(SLURP1):c.158C>T (p.Thr53Met) rs752253252 0.00003
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
NM_020427.3(SLURP1):c.47G>T (p.Ser16Ile) rs775418598 0.00001
C73del
E60K
NM_020427.3(SLURP1):c.*14G>A rs886062732
NM_020427.3(SLURP1):c.111C>A (p.Cys37Ter) rs1324633355
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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