ClinVar Miner

List of variants in gene LOC126863253, UBA1 studied for spinal muscular atrophy

Included ClinVar conditions (88):
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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_003334.4(UBA1):c.117+9C>T rs371344095 0.00088
NM_003334.4(UBA1):c.39C>T (p.Ser13=) rs141450062 0.00048
NM_003334.4(UBA1):c.176+13A>G rs186890744 0.00034
NM_003334.4(UBA1):c.132C>T (p.Asn44=) rs368727585 0.00028
NM_003334.4(UBA1):c.253G>A (p.Val85Met) rs782796398 0.00007
NM_003334.4(UBA1):c.117+15C>T rs782784799 0.00006
NM_003334.4(UBA1):c.177-11del rs781797300 0.00004
NM_003334.4(UBA1):c.176+18C>T rs782702800 0.00003
NM_003334.4(UBA1):c.31C>T (p.Arg11Cys) rs1556786387 0.00003
NM_003334.4(UBA1):c.94G>A (p.Glu32Lys) rs200206019 0.00003
NM_003334.4(UBA1):c.117+10C>T rs1390029777 0.00002
NM_003334.4(UBA1):c.118-10C>T rs1288832522 0.00002
NM_003334.4(UBA1):c.210C>T (p.Leu70=) rs191969626 0.00002
NM_003334.4(UBA1):c.334C>T (p.Leu112Phe) rs782536219 0.00002
NM_003334.4(UBA1):c.93C>T (p.Ser31=) rs782703384 0.00002
NM_003334.4(UBA1):c.117+16G>A rs375750779 0.00001
NM_003334.4(UBA1):c.147C>T (p.Asp49=) rs1556786556 0.00001
NM_003334.4(UBA1):c.206G>A (p.Arg69Gln) rs782425809 0.00001
NM_003334.4(UBA1):c.231A>G (p.Val77=) rs1556786690 0.00001
NM_003334.4(UBA1):c.242G>A (p.Arg81Gln) rs782097752 0.00001
NM_003334.4(UBA1):c.303A>G (p.Leu101=) rs782052238 0.00001
NM_003334.4(UBA1):c.330T>G (p.Ala110=) rs781828321 0.00001
NM_003334.4(UBA1):c.34G>T (p.Val12Leu) rs982155788 0.00001
NM_003334.4(UBA1):c.97G>A (p.Val33Met) rs1449173671 0.00001
NM_003334.4(UBA1):c.105G>A (p.Ser35=) rs782781187
NM_003334.4(UBA1):c.106G>A (p.Val36Met) rs990805894
NM_003334.4(UBA1):c.117C>T (p.Asn39=)
NM_003334.4(UBA1):c.118-10C>G
NM_003334.4(UBA1):c.118-11_118-3del rs2147250233
NM_003334.4(UBA1):c.118-1G>C rs2147250287
NM_003334.4(UBA1):c.118-2A>C rs2147250283
NM_003334.4(UBA1):c.121A>C (p.Met41Leu) rs1936307795
NM_003334.4(UBA1):c.121A>G (p.Met41Val) rs1936307795
NM_003334.4(UBA1):c.122T>C (p.Met41Thr) rs782416867
NM_003334.4(UBA1):c.133G>A (p.Gly45Ser)
NM_003334.4(UBA1):c.153C>T (p.Asp51=)
NM_003334.4(UBA1):c.15G>A (p.Pro5=)
NM_003334.4(UBA1):c.167C>T (p.Ser56Phe) rs2147250370
NM_003334.4(UBA1):c.177-13C>T
NM_003334.4(UBA1):c.191A>G (p.His64Arg)
NM_003334.4(UBA1):c.195G>C (p.Glu65Asp) rs1936314065
NM_003334.4(UBA1):c.205C>T (p.Arg69Trp)
NM_003334.4(UBA1):c.241C>T (p.Arg81Trp) rs1168231329
NM_003334.4(UBA1):c.246C>T (p.Gly82=) rs782336458
NM_003334.4(UBA1):c.261C>T (p.Ile87=)
NM_003334.4(UBA1):c.264T>C (p.Ala88=)
NM_003334.4(UBA1):c.345+11C>T
NM_003334.4(UBA1):c.54G>T (p.Lys18Asn)
NM_003334.4(UBA1):c.56C>T (p.Pro19Leu)
NM_003334.4(UBA1):c.57G>A (p.Pro19=)
NM_003334.4(UBA1):c.62C>T (p.Ser21Phe)
NM_003334.4(UBA1):c.64A>G (p.Asn22Asp)
NM_003334.4(UBA1):c.72C>T (p.Ser24=)
NM_003334.4(UBA1):c.75T>G (p.Pro25=)
NM_003334.4(UBA1):c.76G>A (p.Ala26Thr)
NM_003334.4(UBA1):c.84C>G (p.Ser28=)
NM_003334.4(UBA1):c.84C>T (p.Ser28=) rs782656395
NM_003334.4(UBA1):c.85G>A (p.Val29Met) rs1936300089
NM_003334.4(UBA1):c.8G>A (p.Ser3Asn)
NM_003334.4(UBA1):c.92C>G (p.Ser31Cys)

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