ClinVar Miner

List of variants reported as likely benign for Hereditary spastic paraplegia 28 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_001160148.2(DDHD1):c.733G>A (p.Glu245Lys) rs146006539 0.00104
NM_001160148.2(DDHD1):c.156C>T (p.Gly52=) rs367621941 0.00096
NM_001160148.2(DDHD1):c.941A>G (p.Asn314Ser) rs148836546 0.00081
NM_001160148.2(DDHD1):c.1362T>C (p.Pro454=) rs147452605 0.00039
NM_001160148.2(DDHD1):c.1008A>G (p.Lys336=) rs143307366 0.00029
NM_001160148.2(DDHD1):c.204G>A (p.Ala68=) rs139727469 0.00029
NM_001160148.2(DDHD1):c.1527G>A (p.Glu509=) rs201393353 0.00019
NM_001160148.2(DDHD1):c.614C>T (p.Pro205Leu) rs533899454 0.00017
NM_001160148.2(DDHD1):c.1119C>T (p.Thr373=) rs557024302 0.00011
NM_001160148.2(DDHD1):c.579C>T (p.Ala193=) rs149564453 0.00008
NM_001160148.2(DDHD1):c.2526G>A (p.Glu842=) rs368019624 0.00007
NM_001160148.2(DDHD1):c.12G>A (p.Pro4=) rs973574548 0.00006
NM_001160148.2(DDHD1):c.2667C>T (p.His889=) rs774873200 0.00006
NM_001160148.2(DDHD1):c.687C>T (p.Asp229=) rs769806406 0.00006
NM_001160148.2(DDHD1):c.831C>T (p.Tyr277=) rs368725055 0.00006
NM_001160148.2(DDHD1):c.838+14C>T rs372898360 0.00006
NM_001160148.2(DDHD1):c.312C>T (p.Ser104=) rs767690171 0.00005
NM_001160148.2(DDHD1):c.1012+613A>G rs771542419 0.00004
NM_001160148.2(DDHD1):c.405G>A (p.Ala135=) rs368557990 0.00004
NM_001160148.2(DDHD1):c.1396+14A>C rs1406967544 0.00003
NM_001160148.2(DDHD1):c.1993-19T>A rs182455396 0.00003
NM_001160148.2(DDHD1):c.2385C>T (p.Thr795=) rs1483976464 0.00003
NM_001160148.2(DDHD1):c.2437+7T>G rs577522938 0.00003
NM_001160148.2(DDHD1):c.282C>G (p.Ala94=) rs750005961 0.00003
NM_001160148.2(DDHD1):c.378C>G (p.Val126=) rs773329550 0.00003
NM_001160148.2(DDHD1):c.438C>G (p.Thr146=) rs748129023 0.00003
NM_001160148.2(DDHD1):c.48C>G (p.Gly16=) rs907736393 0.00003
NM_001160148.2(DDHD1):c.501G>A (p.Glu167=) rs769368061 0.00003
NM_001160148.2(DDHD1):c.1012+664T>C rs376884109 0.00002
NM_001160148.2(DDHD1):c.1993-8A>T rs952847418 0.00002
NM_001160148.2(DDHD1):c.2427C>T (p.Leu809=) rs148782241 0.00002
NM_001160148.2(DDHD1):c.2522-8C>T rs768202098 0.00002
NM_001160148.2(DDHD1):c.381G>T (p.Pro127=) rs776947891 0.00002
NM_001160148.2(DDHD1):c.729G>A (p.Gly243=) rs113642168 0.00002
NM_001160148.2(DDHD1):c.1012+661A>G rs1179394686 0.00001
NM_001160148.2(DDHD1):c.1012+665G>A rs1232904052 0.00001
NM_001160148.2(DDHD1):c.1141+20A>C rs1383141238 0.00001
NM_001160148.2(DDHD1):c.1142-7T>C rs748714439 0.00001
NM_001160148.2(DDHD1):c.1161A>G (p.Arg387=) rs1312004804 0.00001
NM_001160148.2(DDHD1):c.1239T>C (p.His413=) rs1038984158 0.00001
NM_001160148.2(DDHD1):c.1290-5T>C rs767317061 0.00001
NM_001160148.2(DDHD1):c.1323G>A (p.Arg441=) rs377387241 0.00001
NM_001160148.2(DDHD1):c.1357C>T (p.Leu453=) rs761376814 0.00001
NM_001160148.2(DDHD1):c.1539G>A (p.Leu513=) rs767424223 0.00001
NM_001160148.2(DDHD1):c.1766+9T>C rs758336095 0.00001
NM_001160148.2(DDHD1):c.1794C>T (p.His598=) rs752148702 0.00001
NM_001160148.2(DDHD1):c.1893G>A (p.Leu631=) rs773742131 0.00001
NM_001160148.2(DDHD1):c.1905C>G (p.Arg635=) rs780940236 0.00001
NM_001160148.2(DDHD1):c.1936T>C (p.Leu646=) rs1883264882 0.00001
NM_001160148.2(DDHD1):c.1992+11A>G rs367814989 0.00001
NM_001160148.2(DDHD1):c.1992+13A>G rs1241199136 0.00001
NM_001160148.2(DDHD1):c.2160C>T (p.Thr720=) rs377049663 0.00001
NM_001160148.2(DDHD1):c.2283G>A (p.Leu761=) rs1328845748 0.00001
NM_001160148.2(DDHD1):c.2286C>T (p.Phe762=) rs1334344549 0.00001
NM_001160148.2(DDHD1):c.2358G>A (p.Lys786=) rs759300334 0.00001
NM_001160148.2(DDHD1):c.2437+18T>G rs763251928 0.00001
NM_001160148.2(DDHD1):c.2437+9A>C rs754826324 0.00001
NM_001160148.2(DDHD1):c.2604T>C (p.Thr868=) rs1339243582 0.00001
NM_001160148.2(DDHD1):c.2649C>T (p.Phe883=) rs374202355 0.00001
NM_001160148.2(DDHD1):c.300G>T (p.Leu100=) rs764049438 0.00001
NM_001160148.2(DDHD1):c.339C>T (p.Ser113=) rs1331453621 0.00001
NM_001160148.2(DDHD1):c.423G>A (p.Gly141=) rs2503569843 0.00001
NM_001160148.2(DDHD1):c.429G>A (p.Arg143=) rs561174238 0.00001
NM_001160148.2(DDHD1):c.441G>A (p.Arg147=) rs1371401647 0.00001
NM_001160148.2(DDHD1):c.576C>T (p.Leu192=) rs1891498139 0.00001
NM_001160148.2(DDHD1):c.723G>A (p.Thr241=) rs752038275 0.00001
NM_001160148.2(DDHD1):c.756G>A (p.Val252=) rs1169901054 0.00001
NM_001160148.2(DDHD1):c.838+15G>A rs762784960 0.00001
NM_001160148.2(DDHD1):c.838+16G>A rs772988112 0.00001
NM_001160148.2(DDHD1):c.839-7T>A rs561534404 0.00001
NM_001160148.2(DDHD1):c.960G>A (p.Gln320=) rs2139724476 0.00001
NM_001160148.2(DDHD1):c.1012+17C>A rs1170959132
NM_001160148.2(DDHD1):c.1012+645C>T rs1595179182
NM_001160148.2(DDHD1):c.1056C>T (p.His352=) rs145960430
NM_001160148.2(DDHD1):c.110G>C (p.Gly37Ala) rs553631939
NM_001160148.2(DDHD1):c.1116T>G (p.Val372=) rs1886597944
NM_001160148.2(DDHD1):c.111C>T (p.Gly37=)
NM_001160148.2(DDHD1):c.1141+13T>C rs2503246011
NM_001160148.2(DDHD1):c.1141+14A>C
NM_001160148.2(DDHD1):c.1143A>G (p.Ala381=)
NM_001160148.2(DDHD1):c.1167T>C (p.His389=)
NM_001160148.2(DDHD1):c.1218C>A (p.Thr406=)
NM_001160148.2(DDHD1):c.126G>A (p.Glu42=) rs1891571856
NM_001160148.2(DDHD1):c.1289+13_1289+24del rs1886447322
NM_001160148.2(DDHD1):c.1289+19G>T rs2503236202
NM_001160148.2(DDHD1):c.1290-13T>A
NM_001160148.2(DDHD1):c.130C>T (p.Leu44=) rs1595289971
NM_001160148.2(DDHD1):c.138C>T (p.Gly46=) rs765127742
NM_001160148.2(DDHD1):c.1396+20G>T rs2503144115
NM_001160148.2(DDHD1):c.1397-10G>T rs745641472
NM_001160148.2(DDHD1):c.1397-10_1397-7del rs759422578
NM_001160148.2(DDHD1):c.1397-9T>G rs528216709
NM_001160148.2(DDHD1):c.1479T>C (p.Tyr493=)
NM_001160148.2(DDHD1):c.1503+18C>T rs901645051
NM_001160148.2(DDHD1):c.1503+7G>C rs2139912538
NM_001160148.2(DDHD1):c.1521G>A (p.Gln507=) rs1352286023
NM_001160148.2(DDHD1):c.1551C>T (p.Phe517=) rs1883742047
NM_001160148.2(DDHD1):c.1656A>G (p.Pro552=) rs1883733099
NM_001160148.2(DDHD1):c.1677G>A (p.Leu559=) rs751528984
NM_001160148.2(DDHD1):c.1767-7T>C
NM_001160148.2(DDHD1):c.1791T>C (p.Leu597=) rs1883515997
NM_001160148.2(DDHD1):c.1842+13C>T
NM_001160148.2(DDHD1):c.189C>G (p.Pro63=) rs1018333893
NM_001160148.2(DDHD1):c.18C>T (p.Arg6=)
NM_001160148.2(DDHD1):c.1905C>T (p.Arg635=) rs780940236
NM_001160148.2(DDHD1):c.1992+8G>T
NM_001160148.2(DDHD1):c.1993-20A>T
NM_001160148.2(DDHD1):c.1993-6dup rs1566520467
NM_001160148.2(DDHD1):c.1993-9T>A rs1314546219
NM_001160148.2(DDHD1):c.2022A>G (p.Lys674=)
NM_001160148.2(DDHD1):c.207G>T (p.Pro69=)
NM_001160148.2(DDHD1):c.2166A>G (p.Pro722=) rs2139839870
NM_001160148.2(DDHD1):c.222C>T (p.His74=) rs2503574198
NM_001160148.2(DDHD1):c.2245+7T>G rs774518760
NM_001160148.2(DDHD1):c.2259T>C (p.Ile753=)
NM_001160148.2(DDHD1):c.2262A>T (p.Gly754=) rs2503046755
NM_001160148.2(DDHD1):c.2437+10T>C
NM_001160148.2(DDHD1):c.2437+12C>T rs1882862124
NM_001160148.2(DDHD1):c.2437+9A>T rs754826324
NM_001160148.2(DDHD1):c.2522-8C>G rs768202098
NM_001160148.2(DDHD1):c.2577C>G (p.Arg859=) rs1219034460
NM_001160148.2(DDHD1):c.276C>T (p.Ser92=) rs2503573299
NM_001160148.2(DDHD1):c.282C>T (p.Ala94=) rs750005961
NM_001160148.2(DDHD1):c.306C>T (p.Tyr102=) rs2139938237
NM_001160148.2(DDHD1):c.315G>A (p.Glu105=) rs774646790
NM_001160148.2(DDHD1):c.325GGC[7] (p.Gly110_Gly112dup) rs55671452
NM_001160148.2(DDHD1):c.325GGC[9] (p.Gly112_Ser113insGlyGlyGlyGlyGly) rs55671452
NM_001160148.2(DDHD1):c.36C>A (p.Pro12=) rs1210171644
NM_001160148.2(DDHD1):c.39G>A (p.Glu13=)
NM_001160148.2(DDHD1):c.450C>A (p.Gly150=) rs1273119901
NM_001160148.2(DDHD1):c.487C>T (p.Leu163=) rs202213647
NM_001160148.2(DDHD1):c.528G>A (p.Lys176=)
NM_001160148.2(DDHD1):c.561G>A (p.Ser187=) rs1161786631
NM_001160148.2(DDHD1):c.564C>T (p.Leu188=) rs943322491
NM_001160148.2(DDHD1):c.60C>T (p.Gly20=) rs1381214648
NM_001160148.2(DDHD1):c.657G>A (p.Thr219=) rs768308854
NM_001160148.2(DDHD1):c.684T>C (p.Asp228=) rs1382953265
NM_001160148.2(DDHD1):c.705C>T (p.Cys235=)
NM_001160148.2(DDHD1):c.816G>A (p.Glu272=) rs2503563831
NM_001160148.2(DDHD1):c.81C>T (p.Gly27=)
NM_001160148.2(DDHD1):c.838+18G>T rs980638622
NM_001160148.2(DDHD1):c.839-13T>C
NM_001160148.2(DDHD1):c.84A>T (p.Ser28=)
NM_001160148.2(DDHD1):c.948T>C (p.Phe316=)
NM_001160148.2(DDHD1):c.954C>A (p.Gly318=)

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