ClinVar Miner

List of variants studied for bulbospinal muscular atrophy of adulthood

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 71
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HGVS dbSNP
NC_000023.10:g.(?_66863078)_(66905988_?)dup
NC_000023.10:g.(?_66905852)_(66905968_?)del
NM_000044.4(AR):c.172_174CAG(10_36) (p.Gln69_Gln80del) rs3032358
NM_000044.4(AR):c.172_174CAG(36_37) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) rs3032358
NM_000044.4(AR):c.172_174CAG(38_68) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) rs3032358
NM_000044.4(AR):c.172_174CAG(7_34) (p.Gln66_Gln80del) rs3032358
NM_000044.6(AR):c.1310_1311CT[2] (p.Phe439fs)
NM_000044.6(AR):c.1370_1372GCG[14] (p.Gly471_Gly473del) rs746853821
NM_000044.6(AR):c.1370_1372GCG[15] (p.Gly472_Gly473del) rs746853821
NM_000044.6(AR):c.1370_1372GCG[16] (p.Gly473del) rs746853821
NM_000044.6(AR):c.1370_1372GCG[18] (p.Gly473dup) rs746853821
NM_000044.6(AR):c.1440dup (p.Tyr481fs) rs1555970004
NM_000044.6(AR):c.1442A>G (p.Tyr481Cys) rs1555970006
NM_000044.6(AR):c.1451_1454del (p.Thr484fs) rs1569265331
NM_000044.6(AR):c.1536G>A (p.Val512=) rs150545747
NM_000044.6(AR):c.1614dup (p.Arg539fs) rs1569265470
NM_000044.6(AR):c.1705G>T (p.Gly569Trp) rs1555982864
NM_000044.6(AR):c.171_173GCA[15] (p.Gln73_Gln80del) rs3032358
NM_000044.6(AR):c.171_173GCA[18] (p.Gln76_Gln80del) rs3032358
NM_000044.6(AR):c.171_173GCA[19] (p.Gln77_Gln80del) rs3032358
NM_000044.6(AR):c.171_173GCA[20] (p.Gln78_Gln80del) rs3032358
NM_000044.6(AR):c.171_173GCA[24] (p.Gln80dup) rs3032358
NM_000044.6(AR):c.171_173GCA[28] (p.Gln76_Gln80dup) rs3032358
NM_000044.6(AR):c.171_173GCA[31] (p.Gln73_Gln80dup) rs3032358
NM_000044.6(AR):c.171_173GCA[32] (p.Gln72_Gln80dup) rs3032358
NM_000044.6(AR):c.171_173GCA[36] (p.Gln68_Gln80dup)
NM_000044.6(AR):c.1722_1723TC[1] (p.Leu575fs)
NM_000044.6(AR):c.172_173insTGCAGCAGC (p.Gln58_Gln59insLeuGlnGln) rs1206863775
NM_000044.6(AR):c.1736G>C (p.Ser579Thr) rs1555982879
NM_000044.6(AR):c.173A>T (p.Gln58Leu) rs200185441
NM_000044.6(AR):c.174_175insTAG (p.Gln59Ter)
NM_000044.6(AR):c.1789G>A (p.Ala597Thr) rs137852569
NM_000044.6(AR):c.1805G>A (p.Cys602Tyr) rs1555990470
NM_000044.6(AR):c.1823G>A (p.Arg608Gln) rs137852573
NM_000044.6(AR):c.1844G>C (p.Cys615Ser)
NM_000044.6(AR):c.1897A>T (p.Lys633Ter)
NM_000044.6(AR):c.195_199delinsTT (p.Gln65_Gln67delinsHisTer) rs1569263557
NM_000044.6(AR):c.2021T>C (p.Phe674Ser)
NM_000044.6(AR):c.2053G>A (p.Val685Ile) rs1555995822
NM_000044.6(AR):c.2068C>A (p.His690Asn)
NM_000044.6(AR):c.2121A>C (p.Glu707Asp) rs1555995856
NM_000044.6(AR):c.2176T>C (p.Phe726Leu) rs1555996810
NM_000044.6(AR):c.2239G>A (p.Val747Met)
NM_000044.6(AR):c.2257C>T (p.Arg753Ter) rs886039558
NM_000044.6(AR):c.2296G>A (p.Ala766Thr) rs1555996863
NM_000044.6(AR):c.2318+1G>C rs1569314508
NM_000044.6(AR):c.2359C>T (p.Arg787Ter) rs1555997580
NM_000044.6(AR):c.2391G>A (p.Trp797Ter) rs137852565
NM_000044.6(AR):c.2437C>T (p.Leu813Phe) rs1555997625
NM_000044.6(AR):c.2495G>A (p.Arg832Gln) rs1386577803
NM_000044.6(AR):c.2517C>T (p.Leu839=) rs6153
NM_000044.6(AR):c.2521C>T (p.Arg841Cys) rs137852577
NM_000044.6(AR):c.2522G>A (p.Arg841His) rs9332969
NM_000044.6(AR):c.2528T>C (p.Ile843Thr)
NM_000044.6(AR):c.2546dup (p.Asn849fs)
NM_000044.6(AR):c.2567G>A (p.Arg856His) rs9332971
NM_000044.6(AR):c.2599G>A (p.Val867Met) rs137852564
NM_000044.6(AR):c.2612C>T (p.Ala871Val) rs143040492
NM_000044.6(AR):c.2668G>A (p.Val890Met) rs886041133
NM_000044.6(AR):c.2678C>A (p.Pro893Gln)
NM_000044.6(AR):c.2678C>T (p.Pro893Leu)
NM_000044.6(AR):c.2696T>C (p.Ile899Thr) rs1555998105
NM_000044.6(AR):c.2698A>T (p.Ile900Phe) rs1555998108
NM_000044.6(AR):c.271C>T (p.Gln91Ter)
NM_000044.6(AR):c.2752del (p.His918fs)
NM_000044.6(AR):c.292C>T (p.Gln98Ter) rs1555969553
NM_000044.6(AR):c.636G>A (p.Arg212=) rs150226204
NM_000044.6(AR):c.749dup (p.Val251fs) rs1555969684
NM_000044.6(AR):c.756_765del (p.Glu252fs)
NM_000044.6(AR):c.830_845dup (p.Pro283fs) rs1569264288
NM_000044.6(AR):c.949A>G (p.Thr317Ala) rs1555969722

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