ClinVar Miner

List of variants studied for bulbospinal muscular atrophy by Baylor Genetics

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220 0.00400
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_003384.3(VRK1):c.858G>T (p.Met286Ile) rs139476915 0.00051
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_016042.4(EXOSC3):c.448A>G (p.Thr150Ala) rs145464176 0.00048
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) rs772731615 0.00020
NM_025265.4(TSEN2):c.971C>T (p.Thr324Met) rs772061041 0.00010
NM_207346.3(TSEN54):c.1035G>C (p.Lys345Asn) rs376308638 0.00007
NM_016955.4(SEPSECS):c.388+3A>G rs757504141 0.00006
NM_016955.4(SEPSECS):c.634C>G (p.Leu212Val) rs202043298 0.00006
NM_003384.3(VRK1):c.356A>G (p.His119Arg) rs371295780 0.00003
NM_207346.3(TSEN54):c.637A>G (p.Lys213Glu) rs184421010 0.00003
NM_181503.3(EXOSC8):c.13T>C (p.Phe5Leu) rs200881798 0.00002
NM_207346.3(TSEN54):c.808C>T (p.Pro270Ser) rs758853965 0.00002
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218 0.00001
NM_016955.4(SEPSECS):c.1148dup (p.His383fs) rs761072755 0.00001
NM_016955.4(SEPSECS):c.256C>T (p.Arg86Cys) rs373439857 0.00001
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys) rs113994149 0.00001
NM_025265.4(TSEN2):c.770_776delinsCA (p.Tyr257fs) rs2054534882
NM_207346.3(TSEN54):c.1280T>C (p.Leu427Pro) rs2053450384
NM_207346.3(TSEN54):c.167G>A (p.Arg56His) rs1281448557
NM_207346.3(TSEN54):c.940del (p.Leu314fs) rs1012275384

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