ClinVar Miner

List of variants in gene STAP1 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_012108.4(STAP1):c.414G>C (p.Leu138=) rs149803575 0.00156
NM_012108.4(STAP1):c.738C>T (p.Leu246=) rs144841016 0.00054
NM_012108.4(STAP1):c.450T>A (p.Ile150=) rs145774290 0.00019
NM_012108.4(STAP1):c.587C>G (p.Ser196Cys) rs201684919 0.00014
NM_012108.4(STAP1):c.693C>T (p.Ser231=) rs202213204 0.00007
NM_012108.4(STAP1):c.119G>A (p.Arg40Gln) rs756002065 0.00006
NM_012108.4(STAP1):c.173C>T (p.Thr58Ile) rs201666437 0.00005
NM_012108.4(STAP1):c.182A>G (p.Lys61Arg) rs746140409 0.00005
NM_012108.4(STAP1):c.486G>A (p.Lys162=) rs769900958 0.00005
NM_012108.4(STAP1):c.174C>T (p.Thr58=) rs575858699 0.00004
NM_012108.4(STAP1):c.118C>T (p.Arg40Trp) rs750116272 0.00003
NM_012108.4(STAP1):c.549C>A (p.Ser183=) rs142832500 0.00003
NM_012108.4(STAP1):c.643A>G (p.Ile215Val) rs1183202563 0.00003
NM_012108.4(STAP1):c.14A>G (p.Lys5Arg) rs889535758 0.00002
NM_012108.4(STAP1):c.455C>T (p.Thr152Ile) rs2109864863 0.00002
NM_012108.4(STAP1):c.154A>G (p.Thr52Ala) rs1366754640 0.00001
NM_012108.4(STAP1):c.158C>T (p.Thr53Ile) rs1406508982 0.00001
NM_012108.4(STAP1):c.159T>A (p.Thr53=) rs370473803 0.00001
NM_012108.4(STAP1):c.171T>C (p.Tyr57=) rs199905817 0.00001
NM_012108.4(STAP1):c.184A>T (p.Ser62Cys) rs770138895 0.00001
NM_012108.4(STAP1):c.186T>C (p.Ser62=) rs775890704 0.00001
NM_012108.4(STAP1):c.19C>A (p.Pro7Thr) rs777354386 0.00001
NM_012108.4(STAP1):c.42C>A (p.Ile14=) rs1158095243 0.00001
NM_012108.4(STAP1):c.449T>C (p.Ile150Thr) rs779496091 0.00001
NM_012108.4(STAP1):c.459G>A (p.Glu153=) rs1727853837 0.00001
NM_012108.4(STAP1):c.471C>T (p.Ser157=) rs765642792 0.00001
NM_012108.4(STAP1):c.540T>C (p.Tyr180=) rs148529566 0.00001
NM_012108.4(STAP1):c.581A>G (p.Asn194Ser) rs748244932 0.00001
NM_012108.4(STAP1):c.654G>C (p.Glu218Asp) rs1040729052 0.00001
NM_012108.4(STAP1):c.782G>A (p.Arg261Gln) rs756464771 0.00001
NM_012108.4(STAP1):c.784G>A (p.Gly262Arg) rs780523549 0.00001
NM_012108.4(STAP1):c.106C>T (p.Arg36Trp) rs201298373
NM_012108.4(STAP1):c.107G>A (p.Arg36Gln)
NM_012108.4(STAP1):c.113G>C (p.Gly38Ala) rs760348683
NM_012108.4(STAP1):c.127G>A (p.Glu43Lys) rs2545891392
NM_012108.4(STAP1):c.127G>C (p.Glu43Gln)
NM_012108.4(STAP1):c.144G>A (p.Glu48=) rs767034229
NM_012108.4(STAP1):c.145T>C (p.Leu49=) rs2545891416
NM_012108.4(STAP1):c.157A>C (p.Thr53Pro) rs1727595529
NM_012108.4(STAP1):c.173C>A (p.Thr58Asn)
NM_012108.4(STAP1):c.18C>T (p.Pro6=)
NM_012108.4(STAP1):c.34C>G (p.Arg12Gly) rs1188430911
NM_012108.4(STAP1):c.356T>C (p.Val119Ala) rs374064388
NM_012108.4(STAP1):c.382G>A (p.Val128Met)
NM_012108.4(STAP1):c.423C>G (p.Val141=) rs1727852115
NM_012108.4(STAP1):c.434A>G (p.Glu145Gly)
NM_012108.4(STAP1):c.440A>G (p.Lys147Arg) rs2545899575
NM_012108.4(STAP1):c.444G>A (p.Arg148=)
NM_012108.4(STAP1):c.453G>C (p.Glu151Asp) rs946785426
NM_012108.4(STAP1):c.464G>T (p.Ser155Ile)
NM_012108.4(STAP1):c.465T>A (p.Ser155Arg)
NM_012108.4(STAP1):c.467C>T (p.Thr156Met) rs778568896
NM_012108.4(STAP1):c.481G>A (p.Glu161Lys) rs2545899627
NM_012108.4(STAP1):c.484A>G (p.Lys162Glu)
NM_012108.4(STAP1):c.494C>T (p.Thr165Ile)
NM_012108.4(STAP1):c.498A>C (p.Glu166Asp)
NM_012108.4(STAP1):c.50A>G (p.Glu17Gly) rs1465175008
NM_012108.4(STAP1):c.511G>C (p.Val171Leu)
NM_012108.4(STAP1):c.511G>T (p.Val171Leu) rs529759760
NM_012108.4(STAP1):c.520C>T (p.Pro174Ser) rs189780620
NM_012108.4(STAP1):c.543A>G (p.Thr181=)
NM_012108.4(STAP1):c.57A>G (p.Leu19=) rs748061826
NM_012108.4(STAP1):c.614G>A (p.Gly205Asp) rs2545901254
NM_012108.4(STAP1):c.621C>T (p.Asp207=) rs2545901265
NM_012108.4(STAP1):c.630C>A (p.Asn210Lys) rs1727916663
NM_012108.4(STAP1):c.630C>G (p.Asn210Lys)
NM_012108.4(STAP1):c.634T>A (p.Ser212Thr) rs2545901284
NM_012108.4(STAP1):c.637A>G (p.Ile213Val) rs1727916900
NM_012108.4(STAP1):c.639C>T (p.Ile213=)
NM_012108.4(STAP1):c.672C>A (p.Ile224=) rs761582335
NM_012108.4(STAP1):c.681C>T (p.Tyr227=) rs767290477
NM_012108.4(STAP1):c.688A>G (p.Met230Val)
NM_012108.4(STAP1):c.694G>C (p.Val232Leu) rs766397325
NM_012108.4(STAP1):c.707A>T (p.Tyr236Phe) rs2545907313
NM_012108.4(STAP1):c.708C>T (p.Tyr236=) rs2545907315
NM_012108.4(STAP1):c.709A>G (p.Thr237Ala) rs141115095
NM_012108.4(STAP1):c.722A>T (p.Glu241Val) rs757407635
NM_012108.4(STAP1):c.744C>G (p.Asn248Lys)
NM_012108.4(STAP1):c.788A>C (p.Asn263Thr)
NM_012108.4(STAP1):c.790T>G (p.Leu264Val) rs2545910195
NM_012108.4(STAP1):c.801T>C (p.Phe267=)
NM_012108.4(STAP1):c.803T>C (p.Ile268Thr) rs2545910211
NM_012108.4(STAP1):c.822C>T (p.Asn274=) rs2545910230
NM_012108.4(STAP1):c.861G>T (p.Lys287Asn) rs748733607
NM_012108.4(STAP1):c.862T>G (p.Leu288Val) rs757970699
NM_012108.4(STAP1):c.86A>C (p.Glu29Ala) rs1727272416
NM_012108.4(STAP1):c.872A>C (p.Asn291Thr)
NM_012108.4(STAP1):c.883G>A (p.Ala295Thr) rs1004738599

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