ClinVar Miner

List of variants reported as likely benign for Hereditary spastic paraplegia 3A

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ClinVar version:
Total variants: 150
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HGVS dbSNP gnomAD frequency
NM_015915.5(ATL1):c.669C>T (p.Tyr223=) rs146975855 0.00059
NM_015915.5(ATL1):c.1428A>G (p.Leu476=) rs367898123 0.00017
NM_015915.5(ATL1):c.991-6T>G rs192428744 0.00016
NM_015915.5(ATL1):c.1152A>G (p.Pro384=) rs377127492 0.00014
NM_015915.5(ATL1):c.1173C>T (p.His391=) rs149340140 0.00013
NM_015915.5(ATL1):c.306C>A (p.Asp102Glu) rs145204580 0.00010
NM_015915.5(ATL1):c.322A>G (p.Thr108Ala) rs112496709 0.00010
NM_015915.5(ATL1):c.45G>A (p.Ser15=) rs775540772 0.00006
NM_015915.5(ATL1):c.1120-15C>T rs771568686 0.00005
NM_015915.5(ATL1):c.574-6T>C rs375319089 0.00005
NM_015915.5(ATL1):c.27C>G (p.Asn9Lys) rs752593199 0.00004
NM_015915.5(ATL1):c.654C>T (p.Asp218=) rs746330841 0.00004
NM_015915.5(ATL1):c.969G>C (p.Arg323=) rs753145983 0.00004
NM_015915.5(ATL1):c.991-12C>G rs371714758 0.00004
NM_015915.5(ATL1):c.1197G>C (p.Val399=) rs1263398623 0.00003
NM_015915.5(ATL1):c.1201C>T (p.Leu401=) rs770209278 0.00003
NM_015915.5(ATL1):c.1311T>C (p.Asp437=) rs571258298 0.00003
NM_015915.5(ATL1):c.1452C>T (p.Thr484=) rs752761440 0.00003
NM_015915.5(ATL1):c.1542G>A (p.Leu514=) rs765171869 0.00003
NM_015915.5(ATL1):c.1566+10A>T rs376646323 0.00003
NM_015915.5(ATL1):c.1567-12del rs768580872 0.00003
NM_015915.5(ATL1):c.1641G>A (p.Ser547=) rs761099386 0.00003
NM_015915.5(ATL1):c.200T>C (p.Val67Ala) rs768342546 0.00003
NM_015915.5(ATL1):c.879C>T (p.Phe293=) rs745748043 0.00003
NM_015915.5(ATL1):c.990+11C>T rs750229341 0.00003
NM_015915.5(ATL1):c.990+14T>C rs376670614 0.00003
NM_015915.5(ATL1):c.996T>C (p.Tyr332=) rs150218601 0.00003
NM_015915.5(ATL1):c.1120-10T>C rs372764167 0.00002
NM_015915.5(ATL1):c.1245G>A (p.Arg415=) rs979353252 0.00002
NM_015915.5(ATL1):c.1347C>T (p.Ala449=) rs773997706 0.00002
NM_015915.5(ATL1):c.1551+11C>G rs894699234 0.00002
NM_015915.5(ATL1):c.177G>A (p.Ser59=) rs201580688 0.00002
NM_015915.5(ATL1):c.35-20G>T rs1342373492 0.00002
NM_015915.5(ATL1):c.756C>T (p.Asn252=) rs771031586 0.00002
NM_015915.5(ATL1):c.990+9C>G rs1267291538 0.00002
NM_015915.5(ATL1):c.1047+12T>C rs375882898 0.00001
NM_015915.5(ATL1):c.1047+18G>A rs746881198 0.00001
NM_015915.5(ATL1):c.1048-7T>C rs1305101011 0.00001
NM_015915.5(ATL1):c.1074A>C (p.Ala358=) rs1363756767 0.00001
NM_015915.5(ATL1):c.1203A>T (p.Leu401=) rs1277114356 0.00001
NM_015915.5(ATL1):c.126T>C (p.Asp42=) rs1330331510 0.00001
NM_015915.5(ATL1):c.1308T>C (p.Asn436=) rs751796325 0.00001
NM_015915.5(ATL1):c.1332A>C (p.Ala444=) rs778318620 0.00001
NM_015915.5(ATL1):c.1377T>C (p.Tyr459=) rs775045809 0.00001
NM_015915.5(ATL1):c.1449G>C (p.Leu483=) rs371411344 0.00001
NM_015915.5(ATL1):c.1551+9A>G rs765253669 0.00001
NM_015915.5(ATL1):c.1623T>G (p.Ala541=) rs777479928 0.00001
NM_015915.5(ATL1):c.300T>G (p.Val100=) rs863224772 0.00001
NM_015915.5(ATL1):c.418-14C>G rs1441690169 0.00001
NM_015915.5(ATL1):c.483C>T (p.Ala161=) rs370173293 0.00001
NM_015915.5(ATL1):c.523-13T>C rs778508132 0.00001
NM_015915.5(ATL1):c.54A>G (p.Thr18=) rs760438659 0.00001
NM_015915.5(ATL1):c.552G>A (p.Glu184=) rs781562624 0.00001
NM_015915.5(ATL1):c.574-19T>C rs2039207714 0.00001
NM_015915.5(ATL1):c.630+20T>C rs768171356 0.00001
NM_015915.5(ATL1):c.630+9G>A rs775158390 0.00001
NM_015915.5(ATL1):c.699C>T (p.Ala233=) rs1347858003 0.00001
NM_015915.5(ATL1):c.863-12T>C rs758265363 0.00001
NM_015915.5(ATL1):c.873T>C (p.Asp291=) rs1302048030 0.00001
NM_015915.5(ATL1):c.921C>T (p.Pro307=) rs535790981 0.00001
NM_015915.5(ATL1):c.927C>T (p.Ser309=) rs2039459083 0.00001
NM_015915.5(ATL1):c.1002G>A (p.Lys334=) rs2504560389
NM_015915.5(ATL1):c.1035A>G (p.Lys345=) rs1343892266
NM_015915.5(ATL1):c.1047+10A>G rs2140233560
NM_015915.5(ATL1):c.1048-20A>G
NM_015915.5(ATL1):c.1077C>T (p.Ala359=) rs762239498
NM_015915.5(ATL1):c.1119+19A>G rs2504564489
NM_015915.5(ATL1):c.1119+7G>A rs1487034076
NM_015915.5(ATL1):c.111C>A (p.Val37=) rs2039117796
NM_015915.5(ATL1):c.1120-11_1120-8del rs779780031
NM_015915.5(ATL1):c.1137A>G (p.Lys379=) rs2140238970
NM_015915.5(ATL1):c.114C>T (p.Leu38=) rs1566722936
NM_015915.5(ATL1):c.1158C>T (p.Asp386=) rs2140238986
NM_015915.5(ATL1):c.1266G>A (p.Glu422=) rs1595625167
NM_015915.5(ATL1):c.1296T>C (p.Tyr432=) rs2140239149
NM_015915.5(ATL1):c.1332A>G (p.Ala444=) rs778318620
NM_015915.5(ATL1):c.1341C>G (p.Thr447=)
NM_015915.5(ATL1):c.1341C>T (p.Thr447=) rs2140239227
NM_015915.5(ATL1):c.135C>T (p.Ser45=) rs2039118124
NM_015915.5(ATL1):c.1374A>G (p.Thr458=) rs923116872
NM_015915.5(ATL1):c.1392G>A (p.Val464=)
NM_015915.5(ATL1):c.1392G>C (p.Val464=) rs2504578054
NM_015915.5(ATL1):c.1426C>T (p.Leu476=)
NM_015915.5(ATL1):c.1434T>C (p.Asn478=) rs1555365873
NM_015915.5(ATL1):c.1485G>C (p.Arg495=) rs375842854
NM_015915.5(ATL1):c.1512A>G (p.Gly504=) rs1265080759
NM_015915.5(ATL1):c.1518A>C (p.Val506=)
NM_015915.5(ATL1):c.1551+10C>T rs773209459
NM_015915.5(ATL1):c.1566+10dup rs778034187
NM_015915.5(ATL1):c.1567-13G>A
NM_015915.5(ATL1):c.1567-18T>C rs763509651
NM_015915.5(ATL1):c.1611G>C (p.Leu537=) rs1435348164
NM_015915.5(ATL1):c.1650T>A (p.Thr550=) rs1486848170
NM_015915.5(ATL1):c.1676A>G (p.Ter559=) rs1442353711
NM_015915.5(ATL1):c.177G>C (p.Ser59=) rs201580688
NM_015915.5(ATL1):c.192C>T (p.Asp64=) rs974359414
NM_015915.5(ATL1):c.210A>G (p.Val70=)
NM_015915.5(ATL1):c.22A>C (p.Arg8=) rs2504415885
NM_015915.5(ATL1):c.249G>A (p.Leu83=) rs2039119808
NM_015915.5(ATL1):c.282+15C>G rs764492146
NM_015915.5(ATL1):c.282+15C>T rs764492146
NM_015915.5(ATL1):c.282+18T>G rs754290939
NM_015915.5(ATL1):c.283-16C>G rs764697428
NM_015915.5(ATL1):c.283-20T>C rs2504491893
NM_015915.5(ATL1):c.283-20del rs2504491903
NM_015915.5(ATL1):c.283-8T>C
NM_015915.5(ATL1):c.318A>T (p.Pro106=) rs2140204833
NM_015915.5(ATL1):c.34+10A>G rs2140173150
NM_015915.5(ATL1):c.34+16G>A rs368925590
NM_015915.5(ATL1):c.34+16G>C rs368925590
NM_015915.5(ATL1):c.34+16G>T rs368925590
NM_015915.5(ATL1):c.348T>C (p.Ser116=) rs2504492117
NM_015915.5(ATL1):c.35-10T>C rs2140201641
NM_015915.5(ATL1):c.35-11C>A rs2039116866
NM_015915.5(ATL1):c.35-15T>C rs2504484023
NM_015915.5(ATL1):c.35-16C>T rs1269807704
NM_015915.5(ATL1):c.35-8T>C rs2504484043
NM_015915.5(ATL1):c.354A>G (p.Arg118=)
NM_015915.5(ATL1):c.417+23_417+27del
NM_015915.5(ATL1):c.418-19G>A rs2934684
NM_015915.5(ATL1):c.426G>A (p.Val142=) rs2140205389
NM_015915.5(ATL1):c.444G>A (p.Gln148=) rs756976549
NM_015915.5(ATL1):c.450C>A (p.Thr150=) rs984920474
NM_015915.5(ATL1):c.522+10A>G rs1238847891
NM_015915.5(ATL1):c.522+15C>T rs2140205538
NM_015915.5(ATL1):c.522+19T>C rs748226901
NM_015915.5(ATL1):c.522+19T>G rs748226901
NM_015915.5(ATL1):c.522+25_522+27del rs756989898
NM_015915.5(ATL1):c.531C>T (p.Asn177=) rs1458927844
NM_015915.5(ATL1):c.570C>A (p.Leu190=) rs202173614
NM_015915.5(ATL1):c.573+14T>C rs2504499235
NM_015915.5(ATL1):c.574-14A>G
NM_015915.5(ATL1):c.574-20G>A rs1404434360
NM_015915.5(ATL1):c.576T>G (p.Leu192=) rs2504503887
NM_015915.5(ATL1):c.582T>G (p.Thr194=) rs2504503907
NM_015915.5(ATL1):c.60A>G (p.Glu20=) rs2039117245
NM_015915.5(ATL1):c.630+15A>T rs2504504235
NM_015915.5(ATL1):c.631-20C>G rs1566730748
NM_015915.5(ATL1):c.631-7T>G rs186528086
NM_015915.5(ATL1):c.631-9_631-7del rs2504540530
NM_015915.5(ATL1):c.633T>C (p.Ser211=)
NM_015915.5(ATL1):c.634C>T (p.Leu212=) rs2504540607
NM_015915.5(ATL1):c.723+10A>C rs759370589
NM_015915.5(ATL1):c.735C>T (p.Asn245=) rs2140226881
NM_015915.5(ATL1):c.862+15A>G rs765367062
NM_015915.5(ATL1):c.990+19G>C rs745359588
NM_015915.5(ATL1):c.990+20A>G
NM_015915.5(ATL1):c.991-12_991-11del rs763860692
NM_015915.5(ATL1):c.991-16T>C rs2504560233
NM_015915.5(ATL1):c.991-19T>A rs2504560213

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