ClinVar Miner

List of variants in gene UBA1 reported as likely benign for congenital limb malformation

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 171
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HGVS dbSNP gnomAD frequency
NM_153280.2(UBA1):c.*203C>T rs182093778 0.01657
NM_003334.4(UBA1):c.1702C>G (p.Leu568Val) rs150574055 0.00347
NM_003334.4(UBA1):c.2004-13C>T rs201794720 0.00162
NM_003334.4(UBA1):c.873C>T (p.Ile291=) rs143062483 0.00041
NM_003334.4(UBA1):c.2299G>A (p.Ala767Thr) rs187589555 0.00025
NM_003334.4(UBA1):c.2733G>A (p.Lys911=) rs149284493 0.00019
NM_003334.4(UBA1):c.346-10A>C rs782089237 0.00016
NM_003334.4(UBA1):c.753A>G (p.Ser251=) rs141505579 0.00012
NM_003334.4(UBA1):c.1156C>T (p.Leu386=) rs782722368 0.00008
NM_003334.4(UBA1):c.1665C>T (p.Asp555=) rs376109672 0.00008
NM_003334.4(UBA1):c.2813A>G (p.Glu938Gly) rs782120956 0.00008
NM_003334.4(UBA1):c.1356C>T (p.Asp452=) rs375669736 0.00006
NM_003334.4(UBA1):c.1233+8C>T rs1178927745 0.00005
NM_003334.4(UBA1):c.1400G>A (p.Gly467Asp) rs201504752 0.00004
NM_003334.4(UBA1):c.411G>A (p.Glu137=) rs782009712 0.00004
NM_003334.4(UBA1):c.423T>C (p.Tyr141=) rs782435953 0.00004
NM_003334.4(UBA1):c.1077A>C (p.Val359=) rs782342123 0.00003
NM_003334.4(UBA1):c.1576-19C>T rs782315217 0.00003
NM_003334.4(UBA1):c.1683T>C (p.Asp561=) rs781873529 0.00003
NM_003334.4(UBA1):c.2004-12G>A rs201583168 0.00003
NM_003334.4(UBA1):c.2391C>T (p.Pro797=) rs1556793279 0.00003
NM_003334.4(UBA1):c.2838+17G>A rs1467681554 0.00003
NM_003334.4(UBA1):c.852C>T (p.Ser284=) rs781839047 0.00003
NM_003334.4(UBA1):c.910-8C>T rs374197052 0.00003
NM_003334.4(UBA1):c.1234-9C>T rs374680331 0.00002
NM_003334.4(UBA1):c.1294C>T (p.Leu432Phe) rs781838601 0.00002
NM_003334.4(UBA1):c.1420-8C>T rs782038176 0.00002
NM_003334.4(UBA1):c.1638A>G (p.Thr546=) rs201169336 0.00002
NM_003334.4(UBA1):c.1851G>A (p.Ser617=) rs782523119 0.00002
NM_003334.4(UBA1):c.1875T>C (p.Pro625=) rs1361428166 0.00002
NM_003334.4(UBA1):c.2292T>C (p.Tyr764=) rs782394637 0.00002
NM_003334.4(UBA1):c.2464+9_2464+16del rs782707059 0.00002
NM_003334.4(UBA1):c.2465-17T>C rs1354603007 0.00002
NM_003334.4(UBA1):c.2725C>T (p.Leu909=) rs1268375603 0.00002
NM_003334.4(UBA1):c.2940+4A>G rs782751765 0.00002
NM_003334.4(UBA1):c.2949C>T (p.His983=) rs139697760 0.00002
NM_003334.4(UBA1):c.687C>T (p.Pro229=) rs782311444 0.00002
NM_003334.4(UBA1):c.812-8C>T rs1196797596 0.00002
NM_003334.4(UBA1):c.910-7G>A rs782321523 0.00002
NM_003334.4(UBA1):c.954G>A (p.Thr318=) rs368506746 0.00002
NM_003334.4(UBA1):c.1047C>T (p.Pro349=) rs782664927 0.00001
NM_003334.4(UBA1):c.1353T>C (p.Tyr451=) rs1488418187 0.00001
NM_003334.4(UBA1):c.1401C>G (p.Gly467=) rs782569910 0.00001
NM_003334.4(UBA1):c.1576-20G>A rs377335190 0.00001
NM_003334.4(UBA1):c.1758C>T (p.Arg586=) rs782655127 0.00001
NM_003334.4(UBA1):c.1929C>T (p.His643=) rs782419696 0.00001
NM_003334.4(UBA1):c.2115C>T (p.Asp705=) rs1481710267 0.00001
NM_003334.4(UBA1):c.2136C>T (p.His712=) rs781845476 0.00001
NM_003334.4(UBA1):c.2187C>T (p.Phe729=) rs1480401128 0.00001
NM_003334.4(UBA1):c.2202C>A (p.Leu734=) rs1556793129 0.00001
NM_003334.4(UBA1):c.2371C>T (p.Leu791=) rs1556793265 0.00001
NM_003334.4(UBA1):c.2412C>T (p.Gly804=) rs201456998 0.00001
NM_003334.4(UBA1):c.2554-6T>C rs370565575 0.00001
NM_003334.4(UBA1):c.2586C>T (p.Ile862=) rs150512668 0.00001
NM_003334.4(UBA1):c.2640G>C (p.Arg880=) rs1262504002 0.00001
NM_003334.4(UBA1):c.2688G>A (p.Thr896=) rs781811327 0.00001
NM_003334.4(UBA1):c.2763C>G (p.Ser921=) rs1317157419 0.00001
NM_003334.4(UBA1):c.2831G>A (p.Arg944His) rs782687555 0.00001
NM_003334.4(UBA1):c.3060C>T (p.Ser1020=) rs782246207 0.00001
NM_003334.4(UBA1):c.3132C>T (p.Ser1044=) rs781808756 0.00001
NM_003334.4(UBA1):c.360G>A (p.Glu120=) rs782436604 0.00001
NM_003334.4(UBA1):c.453C>T (p.Leu151=) rs782803598 0.00001
NM_003334.4(UBA1):c.465C>T (p.Phe155=) rs1556787010 0.00001
NM_003334.4(UBA1):c.573G>A (p.Thr191=) rs1556787692 0.00001
NM_003334.4(UBA1):c.603C>T (p.Asp201=) rs782085880 0.00001
NM_003334.4(UBA1):c.663T>A (p.Val221=) rs782741702 0.00001
NM_003334.4(UBA1):c.1038A>G (p.Pro346=) rs1936453717
NM_003334.4(UBA1):c.1041T>A (p.Pro347=) rs2147259947
NM_003334.4(UBA1):c.1056+20A>G
NM_003334.4(UBA1):c.1194C>T (p.Asn398=) rs782489931
NM_003334.4(UBA1):c.1218C>T (p.Ala406=) rs2147261112
NM_003334.4(UBA1):c.1233+15G>A
NM_003334.4(UBA1):c.1234-18C>T
NM_003334.4(UBA1):c.1234-19_1234-16del
NM_003334.4(UBA1):c.1278T>C (p.Phe426=)
NM_003334.4(UBA1):c.1281T>C (p.Asp427=) rs2147261868
NM_003334.4(UBA1):c.1338+15C>T
NM_003334.4(UBA1):c.1339-17C>T
NM_003334.4(UBA1):c.1377C>T (p.Gly459=) rs2147262470
NM_003334.4(UBA1):c.1392G>A (p.Glu464=)
NM_003334.4(UBA1):c.1420-18T>C rs372944361
NM_003334.4(UBA1):c.1420-18T>G rs372944361
NM_003334.4(UBA1):c.1420-5C>T
NM_003334.4(UBA1):c.1533A>G (p.Ser511=) rs2147263778
NM_003334.4(UBA1):c.1569T>C (p.Asp523=) rs1602635564
NM_003334.4(UBA1):c.1575+9G>C
NM_003334.4(UBA1):c.1668G>A (p.Thr556=)
NM_003334.4(UBA1):c.1686C>T (p.Asp562=)
NM_003334.4(UBA1):c.1741+20A>G
NM_003334.4(UBA1):c.1742-19C>T
NM_003334.4(UBA1):c.1800A>G (p.Thr600=) rs1233003223
NM_003334.4(UBA1):c.1920C>T (p.Ala640=)
NM_003334.4(UBA1):c.1923C>T (p.Ile641=)
NM_003334.4(UBA1):c.1939-10C>G
NM_003334.4(UBA1):c.1939-18T>C
NM_003334.4(UBA1):c.2003+11C>T
NM_003334.4(UBA1):c.2003+22_2003+23del rs782114592
NM_003334.4(UBA1):c.2004-6T>C
NM_003334.4(UBA1):c.2094G>A (p.Gln698=) rs1556792871
NM_003334.4(UBA1):c.2124C>T (p.Thr708=) rs2147287638
NM_003334.4(UBA1):c.2130C>A (p.Ala710=) rs782185391
NM_003334.4(UBA1):c.2169G>T (p.Arg723=)
NM_003334.4(UBA1):c.2199+17G>C
NM_003334.4(UBA1):c.2199+8C>T
NM_003334.4(UBA1):c.2247A>C (p.Pro749=)
NM_003334.4(UBA1):c.2247A>G (p.Pro749=)
NM_003334.4(UBA1):c.2250C>T (p.His750=)
NM_003334.4(UBA1):c.2274+10C>T
NM_003334.4(UBA1):c.2274+10_2274+14del
NM_003334.4(UBA1):c.2274+14C>G
NM_003334.4(UBA1):c.2274+14C>T
NM_003334.4(UBA1):c.2340C>T (p.Gly780=)
NM_003334.4(UBA1):c.2424T>C (p.His808=) rs1936899956
NM_003334.4(UBA1):c.2433C>T (p.Asp811=)
NM_003334.4(UBA1):c.2465-5T>C
NM_003334.4(UBA1):c.2484G>A (p.Glu828=)
NM_003334.4(UBA1):c.2554-6T>A
NM_003334.4(UBA1):c.2554-6_2554-5del
NM_003334.4(UBA1):c.2595A>T (p.Ala865=) rs139492208
NM_003334.4(UBA1):c.2604C>G (p.Leu868=)
NM_003334.4(UBA1):c.2646+11T>C rs367788670
NM_003334.4(UBA1):c.2646+19_2646+20del
NM_003334.4(UBA1):c.2647-9_2647-6del rs1173482035
NM_003334.4(UBA1):c.2679C>A (p.Ala893=)
NM_003334.4(UBA1):c.2685C>T (p.Ala895=)
NM_003334.4(UBA1):c.2700C>T (p.Ala900=)
NM_003334.4(UBA1):c.2745G>T (p.Gly915=) rs2147297953
NM_003334.4(UBA1):c.2778C>T (p.Phe926=) rs2147298051
NM_003334.4(UBA1):c.2793G>A (p.Leu931=) rs782340410
NM_003334.4(UBA1):c.2838+16C>T
NM_003334.4(UBA1):c.2839-20C>A
NM_003334.4(UBA1):c.2839-4G>A
NM_003334.4(UBA1):c.2841C>T (p.Tyr947=)
NM_003334.4(UBA1):c.2859A>G (p.Thr953=)
NM_003334.4(UBA1):c.2889G>T (p.Leu963=) rs2147303075
NM_003334.4(UBA1):c.2964C>G (p.Thr988=)
NM_003334.4(UBA1):c.3090C>T (p.His1030=)
NM_003334.4(UBA1):c.3135C>A (p.Gly1045=) rs2147305266
NM_003334.4(UBA1):c.3138G>A (p.Glu1046=) rs2147305287
NM_003334.4(UBA1):c.3144C>T (p.Val1048=)
NM_003334.4(UBA1):c.345+20T>C
NM_003334.4(UBA1):c.345+20_345+23del
NM_003334.4(UBA1):c.345+29_345+36del
NM_003334.4(UBA1):c.346-16C>T
NM_003334.4(UBA1):c.369C>T (p.Ile123=) rs200892576
NM_003334.4(UBA1):c.384C>G (p.Ala128=) rs782618684
NM_003334.4(UBA1):c.384C>T (p.Ala128=)
NM_003334.4(UBA1):c.405C>T (p.Leu135=)
NM_003334.4(UBA1):c.480+9G>A
NM_003334.4(UBA1):c.501C>T (p.Thr167=) rs782020007
NM_003334.4(UBA1):c.502C>T (p.Pro168Ser)
NM_003334.4(UBA1):c.540C>T (p.His180=) rs1602629095
NM_003334.4(UBA1):c.574C>A (p.Arg192=) rs185589110
NM_003334.4(UBA1):c.588-13C>T
NM_003334.4(UBA1):c.588-20C>T
NM_003334.4(UBA1):c.588-4A>C
NM_003334.4(UBA1):c.588-7T>C rs1428822064
NM_003334.4(UBA1):c.636T>C (p.Asn212=)
NM_003334.4(UBA1):c.679-16C>G
NM_003334.4(UBA1):c.750T>C (p.Phe250=) rs1936417887
NM_003334.4(UBA1):c.786T>C (p.Asn262=)
NM_003334.4(UBA1):c.811+17G>A
NM_003334.4(UBA1):c.811+18G>C rs2147257670
NM_003334.4(UBA1):c.822C>T (p.Thr274=)
NM_003334.4(UBA1):c.840C>G (p.Thr280=)
NM_003334.4(UBA1):c.840C>T (p.Thr280=) rs1936439884
NM_003334.4(UBA1):c.843C>G (p.Ser281=)
NM_003334.4(UBA1):c.846C>T (p.Asn282=)
NM_003334.4(UBA1):c.909+11C>T
NM_003334.4(UBA1):c.909+9G>T
NM_003334.4(UBA1):c.910-14T>C rs782428315

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