ClinVar Miner

List of variants studied for bulbospinal muscular atrophy by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu) rs201089582 0.00116
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_001077446.4(TSEN34):c.392C>T (p.Ser131Leu) rs202245444 0.00050
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_207346.3(TSEN54):c.1313G>A (p.Arg438Gln) rs200228117 0.00041
NM_025265.4(TSEN2):c.1013C>G (p.Thr338Arg) rs145142315 0.00038
NM_207346.3(TSEN54):c.1136G>A (p.Arg379Gln) rs201948434 0.00038
NM_025265.4(TSEN2):c.322G>T (p.Val108Phe) rs202097247 0.00037
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu) rs149661915 0.00031
NM_207346.3(TSEN54):c.622C>T (p.Arg208Trp) rs147165460 0.00015
NM_207346.3(TSEN54):c.946C>T (p.Arg316Cys) rs377207901 0.00014
NM_025265.4(TSEN2):c.653C>T (p.Pro218Leu) rs201214741 0.00011
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_016955.4(SEPSECS):c.811C>T (p.Arg271Ter) rs745870736 0.00005
NM_025265.4(TSEN2):c.389A>C (p.Lys130Thr) rs142211875 0.00005
NM_003384.3(VRK1):c.356A>G (p.His119Arg) rs371295780 0.00003
NM_016042.4(EXOSC3):c.37G>C (p.Ala13Pro) rs758230758 0.00003
NM_207346.3(TSEN54):c.1039A>T (p.Lys347Ter) rs143604970 0.00003
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_016955.4(SEPSECS):c.1390G>T (p.Glu464Ter) rs747732980 0.00002
NM_016955.4(SEPSECS):c.389-1G>A rs754373273 0.00002
NM_003384.3(VRK1):c.721C>T (p.Arg241Cys) rs141703130 0.00001
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr) rs267607035 0.00001
NM_025265.4(TSEN2):c.431A>G (p.Asn144Ser) rs778603443 0.00001
NM_207346.3(TSEN54):c.1186C>T (p.Arg396Trp) rs542013784 0.00001
NM_207346.3(TSEN54):c.670_671del (p.Lys224fs) rs762142684 0.00001
NM_003384.3(VRK1):c.1058_1060del (p.Thr353del) rs794727029
NM_003384.3(VRK1):c.637T>C (p.Tyr213His) rs1595676477
NM_003384.3(VRK1):c.769G>A (p.Gly257Ser) rs1064797191
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs) rs1296865764
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)
NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer) rs1160669103
NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys) rs267607036
NM_016955.4(SEPSECS):c.1222C>T (p.Leu408Phe) rs752082832
NM_016955.4(SEPSECS):c.289C>T (p.Arg97Ter) rs1309003036
NM_016955.4(SEPSECS):c.467G>A (p.Arg156Gln) rs776438003
NM_016955.5(SEPSECS):c.808dup rs776969714
NM_181503.3(EXOSC8):c.55-10_55-9del rs144158336
NM_207346.3(TSEN54):c.1039_1041delinsTAC (p.Lys347Tyr) rs1568003520

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