ClinVar Miner

List of variants in gene UBA1 reported as benign for Infantile-onset X-linked spinal muscular atrophy

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Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_003334.4(UBA1):c.811+9C>G rs4239964 0.98795
NM_003334.4(UBA1):c.679-33C>G rs4239963 0.29685
NM_003334.4(UBA1):c.1340G>A (p.Arg447His) rs2070169 0.13373
NM_003334.4(UBA1):c.1742-11G>C rs5953010 0.08744
NM_003334.4(UBA1):c.2220G>A (p.Pro740=) rs2230147 0.08227
NM_003334.4(UBA1):c.1742-18G>A rs5953009 0.03613
NM_003334.4(UBA1):c.2308A>C (p.Asn770His) rs143044923 0.00683
NM_003334.4(UBA1):c.2364C>T (p.Ala788=) rs2228658 0.00508
NM_003334.4(UBA1):c.1702C>G (p.Leu568Val) rs150574055 0.00347
NM_003334.4(UBA1):c.2328C>T (p.Tyr776=) rs145177450 0.00332
NM_003334.4(UBA1):c.2351G>A (p.Arg784Gln) rs148382699 0.00253
NM_003334.4(UBA1):c.346-3C>A rs149947901 0.00249
NM_003334.4(UBA1):c.2595A>G (p.Ala865=) rs139492208 0.00247
NM_003334.4(UBA1):c.1233+13G>A rs141049438 0.00241
NM_003334.4(UBA1):c.2004-13C>T rs201794720 0.00162
NM_003334.4(UBA1):c.480+19C>G rs200340536 0.00122
NM_003334.4(UBA1):c.909+12G>A rs367556596 0.00087
NM_003334.4(UBA1):c.648A>G (p.Pro216=) rs146676571 0.00067
NM_003334.4(UBA1):c.1137C>T (p.Asp379=) rs143935711 0.00045
NM_003334.4(UBA1):c.1242C>T (p.Ser414=) rs369843264 0.00032
NM_003334.4(UBA1):c.1486G>A (p.Glu496Lys) rs140950898 0.00031
NM_003334.4(UBA1):c.1296C>T (p.Leu432=) rs147825775 0.00023
NM_003334.4(UBA1):c.2793G>T (p.Leu931=) rs782340410 0.00023
NM_003334.4(UBA1):c.1097A>C (p.Asn366Thr) rs149478641 0.00022
NM_003334.4(UBA1):c.965A>G (p.Lys322Arg) rs146180431 0.00016
NM_003334.4(UBA1):c.1149C>T (p.Ile383=) rs782140742 0.00013
NM_003334.4(UBA1):c.2979C>T (p.Gly993=) rs145283250 0.00012
NM_003334.4(UBA1):c.812-4G>A rs372842152 0.00011
NM_003334.4(UBA1):c.2003+12G>A rs373695438 0.00010
NM_003334.4(UBA1):c.388G>C (p.Val130Leu) rs782523969 0.00010
NM_003334.4(UBA1):c.574C>T (p.Arg192Trp) rs185589110 0.00009
NM_003334.4(UBA1):c.679-16C>T rs200690232 0.00009
NM_003334.4(UBA1):c.1243G>A (p.Gly415Arg) rs373305404 0.00008
NM_003334.4(UBA1):c.1482C>T (p.Cys494=) rs782484295 0.00008
NM_003334.4(UBA1):c.2449G>A (p.Ala817Thr) rs371005753 0.00008
NM_003334.4(UBA1):c.798G>A (p.Glu266=) rs202041421 0.00008
NM_003334.4(UBA1):c.2368T>C (p.Phe790Leu) rs781842141 0.00007
NM_003334.4(UBA1):c.720C>T (p.His240=) rs193168226 0.00007
NM_003334.4(UBA1):c.2646+3G>A rs1214739557 0.00006
NM_003334.4(UBA1):c.2929G>A (p.Asp977Asn) rs200629777 0.00006
NM_003334.4(UBA1):c.430G>A (p.Val144Ile) rs781887272 0.00006
NM_003334.4(UBA1):c.502C>T (p.Pro168Ser) rs782177423 0.00006
NM_003334.4(UBA1):c.1152G>A (p.Arg384=) rs782140095 0.00005
NM_003334.4(UBA1):c.1543C>A (p.Arg515=) rs150198324 0.00005
NM_003334.4(UBA1):c.1610G>A (p.Arg537His) rs372418523 0.00005
NM_003334.4(UBA1):c.1791G>A (p.Glu597=) rs372366129 0.00005
NM_003334.4(UBA1):c.2839-7C>T rs199797125 0.00005
NM_003334.4(UBA1):c.2982G>T (p.Val994=) rs782156608 0.00005
NM_003334.4(UBA1):c.351C>T (p.Tyr117=) rs782799228 0.00005
NM_003334.4(UBA1):c.678+18A>T rs782509809 0.00005
NM_003334.4(UBA1):c.1197C>T (p.Ala399=) rs782593880 0.00004
NM_003334.4(UBA1):c.1836C>G (p.Pro612=) rs201672447 0.00004
NM_003334.4(UBA1):c.2376G>A (p.Gln792=) rs782085921 0.00004
NM_003334.4(UBA1):c.3123C>T (p.Asn1041=) rs781864389 0.00004
NM_003334.4(UBA1):c.2004-12G>A rs201583168 0.00003
NM_003334.4(UBA1):c.2275-7C>T rs782291288 0.00003
NM_003334.4(UBA1):c.2661A>G (p.Ala887=) rs782783941 0.00003
NM_003334.4(UBA1):c.2913C>T (p.Thr971=) rs782810108 0.00003
NM_003334.4(UBA1):c.442A>G (p.Thr148Ala) rs782084400 0.00003
NM_003334.4(UBA1):c.454G>A (p.Val152Ile) rs781800649 0.00003
NM_003334.4(UBA1):c.486G>A (p.Val162=) rs370643219 0.00003
NM_003334.4(UBA1):c.1103G>A (p.Arg368Gln) rs1261345480 0.00002
NM_003334.4(UBA1):c.1173T>C (p.Ala391=) rs781783732 0.00002
NM_003334.4(UBA1):c.1328A>G (p.Lys443Arg) rs888369922 0.00002
NM_003334.4(UBA1):c.1483G>A (p.Gly495Arg) rs1556789396 0.00002
NM_003334.4(UBA1):c.1485G>A (p.Gly495=) rs782721809 0.00002
NM_003334.4(UBA1):c.1818T>C (p.Asn606=) rs782565505 0.00002
NM_003334.4(UBA1):c.2003+10T>C rs369699052 0.00002
NM_003334.4(UBA1):c.2460T>C (p.Ser820=) rs782208544 0.00002
NM_003334.4(UBA1):c.2724G>A (p.Glu908=) rs376593996 0.00002
NM_003334.4(UBA1):c.2823C>T (p.Ala941=) rs782425214 0.00002
NM_003334.4(UBA1):c.2928C>T (p.Leu976=) rs782070102 0.00002
NM_003334.4(UBA1):c.3068C>T (p.Ser1023Leu) rs1185350232 0.00002
NM_003334.4(UBA1):c.1339C>T (p.Arg447Cys) rs570568650 0.00001
NM_003334.4(UBA1):c.2053T>C (p.Leu685=) rs781839671 0.00001
NM_003334.4(UBA1):c.2118C>T (p.Cys706=) rs782597501 0.00001
NM_003334.4(UBA1):c.2275-17G>A rs1444658318 0.00001
NM_003334.4(UBA1):c.2453A>G (p.Asn818Ser) rs781800261 0.00001
NM_003334.4(UBA1):c.2742G>C (p.Gln914His) rs1487402125 0.00001
NM_003334.4(UBA1):c.2941-14C>T rs782755186 0.00001
NM_003334.4(UBA1):c.1233+20G>C rs180764764
NM_003334.4(UBA1):c.1338+23dup
NM_003334.4(UBA1):c.1339-9A>G rs782104383
NM_003334.4(UBA1):c.1695C>T (p.Phe565=) rs782804501
NM_003334.4(UBA1):c.2134C>T (p.His712Tyr) rs1556792901
NM_003334.4(UBA1):c.2626C>T (p.Pro876Ser)
NM_003334.4(UBA1):c.2646+11T>A rs367788670
NM_003334.4(UBA1):c.2646+11T>C rs367788670
NM_003334.4(UBA1):c.2750G>A (p.Arg917Gln)
NM_003334.4(UBA1):c.2839-13_2839-12del rs782494588
NM_003334.4(UBA1):c.3042-10del
NM_003334.4(UBA1):c.3153C>T (p.Pro1051=)
NM_003334.4(UBA1):c.587+21del rs1193937471
NM_003334.4(UBA1):c.804A>C (p.Lys268Asn) rs781996319

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