ClinVar Miner

List of variants studied for Split hand-foot malformation 3

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_022039.4(FBXW4):c.461T>A (p.Val154Glu) rs61382490 0.15406
NM_022039.4(FBXW4):c.*7G>C rs73349895 0.03898
NM_022039.4(FBXW4):c.534C>G (p.Ala178=) rs61761937 0.03084
NM_022039.4(FBXW4):c.216G>A (p.Gly72=) rs77990860 0.02820
NM_022039.4(FBXW4):c.440C>A (p.Ala147Asp) rs117664315 0.02439
NM_022039.4(FBXW4):c.*259C>T rs80085258 0.01794
NM_022039.4(FBXW4):c.472G>C (p.Ala158Pro) rs111600818 0.01363
NM_022039.4(FBXW4):c.1410T>C (p.Tyr470=) rs35614606 0.00575
NM_022039.4(FBXW4):c.134C>T (p.Ala45Val) rs557225276 0.00351
NM_022039.4(FBXW4):c.1011T>C (p.Asp337=) rs61742882 0.00281
NM_022039.4(FBXW4):c.*453C>T rs570558261 0.00263
NM_022039.4(FBXW4):c.*233G>T rs535051082 0.00231
NM_022039.4(FBXW4):c.*204G>A rs185181909 0.00040
NM_022039.4(FBXW4):c.353G>A (p.Gly118Glu) rs532195262 0.00031
NM_022039.4(FBXW4):c.1235+13T>G rs193073481 0.00024
NM_022039.4(FBXW4):c.192G>A (p.Thr64=) rs886046647 0.00024
NM_022039.4(FBXW4):c.1657G>A (p.Ala553Thr) rs200476624 0.00021
NM_022039.4(FBXW4):c.755T>C (p.Val252Ala) rs143070839 0.00021
NM_022039.4(FBXW4):c.*600G>A rs1022774144 0.00014
NM_022039.4(FBXW4):c.726-12G>T rs755969920 0.00011
NM_022039.4(FBXW4):c.1465G>A (p.Glu489Lys) rs770518721 0.00006
NM_022039.4(FBXW4):c.*3G>A rs777074009 0.00005
NM_022039.4(FBXW4):c.*606A>C rs886046641 0.00004
NM_022039.4(FBXW4):c.1549C>T (p.Arg517Trp) rs140286143 0.00003
NM_022039.4(FBXW4):c.1254G>A (p.Thr418=) rs142870264 0.00002
NM_022039.4(FBXW4):c.1181A>G (p.His394Arg) rs151048089 0.00001
NM_022039.4(FBXW4):c.1437C>T (p.Ser479=) rs574963392 0.00001
NM_022039.4(FBXW4):c.710G>A (p.Arg237Gln) rs886046642 0.00001
GRCh37/hg19 10q24.31-24.32(chr10:102822575-103558868)
NM_022039.4(FBXW4):c.*381C>G rs2063775084
NM_022039.4(FBXW4):c.1170G>T (p.Gly390=) rs2064322238
NM_022039.4(FBXW4):c.1302-9C>T rs771930157
NM_022039.4(FBXW4):c.1473C>T (p.His491=) rs147424741
NM_022039.4(FBXW4):c.316G>T (p.Ala106Ser) rs2064658916
NM_022039.4(FBXW4):c.409A>G (p.Arg137Gly) rs886046645
NM_022039.4(FBXW4):c.437G>A (p.Trp146Ter) rs886046644
NM_022039.4(FBXW4):c.493G>A (p.Glu165Lys) rs886046643
NM_022039.4(FBXW4):c.507G>A (p.Ala169=) rs1404824736
NM_022039.4(FBXW4):c.715G>A (p.Gly239Ser) rs759941552
NM_022039.4(FBXW4):c.822-11C>T rs540055383
NM_022039.4(FBXW4):c.923G>A (p.Arg308His) rs771654851

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