ClinVar Miner

List of variants in gene HSPD1 studied for hereditary spastic paraplegia

Included ClinVar conditions (140):
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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_002156.5(HSPD1):c.273A>G (p.Lys91=) rs8539 0.67099
NM_002156.5(HSPD1):c.69T>C (p.Thr23=) rs1050347 0.16721
NM_002156.5(HSPD1):c.1140C>T (p.Val380=) rs61736612 0.06094
NM_002156.5(HSPD1):c.1688G>C (p.Gly563Ala) rs41265953 0.01623
NM_002156.5(HSPD1):c.428-10G>A rs111401572 0.01367
NM_002156.5(HSPD1):c.1360T>C (p.Leu454=) rs147135152 0.00727
NM_002156.5(HSPD1):c.144C>T (p.Ala48=) rs11551346 0.00595
NM_002156.5(HSPD1):c.27C>G (p.Arg9=) rs11551349 0.00481
NM_002156.5(HSPD1):c.1216-9C>T rs189395138 0.00361
NM_002156.5(HSPD1):c.561T>C (p.Ser187=) rs141357756 0.00155
NM_002156.5(HSPD1):c.700+8C>T rs185384719 0.00143
NM_002156.5(HSPD1):c.603A>G (p.Val201=) rs146598485 0.00118
NM_002156.5(HSPD1):c.18A>G (p.Thr6=) rs79630442 0.00059
NM_002156.5(HSPD1):c.551A>G (p.Asn184Ser) rs67967266 0.00035
NM_002156.5(HSPD1):c.732T>G (p.Val244=) rs142108846 0.00024
NM_002156.5(HSPD1):c.1488A>G (p.Gln496=) rs142434256 0.00011
NM_002156.5(HSPD1):c.794A>G (p.Asn265Ser) rs149003485 0.00011
NM_002156.5(HSPD1):c.428-15A>G rs769110777 0.00008
NM_002156.5(HSPD1):c.1446T>C (p.Asn482=) rs2303884 0.00005
NM_002156.5(HSPD1):c.662G>A (p.Arg221Gln) rs140261894 0.00005
NM_002156.5(HSPD1):c.*384T>A rs544314251 0.00003
NM_002156.5(HSPD1):c.175-8T>C rs772029212 0.00003
NM_002156.5(HSPD1):c.*313A>G rs563815280 0.00001
NM_002156.5(HSPD1):c.1009G>A (p.Val337Ile) rs755920309 0.00001
NM_002156.5(HSPD1):c.1207G>A (p.Val403Met) rs886055386 0.00001
NM_002156.5(HSPD1):c.429T>C (p.Gly143=) rs886055389 0.00001
NM_002156.5(HSPD1):c.869+12T>C rs781462822 0.00001
NM_002156.5(HSPD1):c.*121T>C rs2086032939
NM_002156.5(HSPD1):c.*454T>G rs886055384
NM_002156.5(HSPD1):c.*459T>G rs2086028003
NM_002156.5(HSPD1):c.*56G>A rs886055385
NM_002156.5(HSPD1):c.1029A>G (p.Gly343=) rs1433866863
NM_002156.5(HSPD1):c.1294G>T (p.Val432Phe) rs184516277
NM_002156.5(HSPD1):c.1381C>G (p.Gln461Glu)
NM_002156.5(HSPD1):c.1388T>C (p.Ile463Thr) rs2086051396
NM_002156.5(HSPD1):c.1434C>G (p.Thr478=) rs199527127
NM_002156.5(HSPD1):c.145G>C (p.Asp49His) rs2086193574
NM_002156.5(HSPD1):c.1545A>G (p.Glu515=) rs2106070461
NM_002156.5(HSPD1):c.1607C>T (p.Ala536Val) rs863224878
NM_002156.5(HSPD1):c.292G>A (p.Val98Ile) rs66468541
NM_002156.5(HSPD1):c.299A>T (p.Asp100Val)
NM_002156.5(HSPD1):c.445G>C (p.Asp149His) rs781225976
NM_002156.5(HSPD1):c.581G>A (p.Gly194Glu) rs2086136324
NM_002156.5(HSPD1):c.607-4A>G rs886055388
NM_002156.5(HSPD1):c.691A>T (p.Thr231Ser) rs2106076413
NM_002156.5(HSPD1):c.692C>T (p.Thr231Ile) rs2086128764
NM_002156.5(HSPD1):c.849A>G (p.Leu283=) rs557196021
NM_002156.5(HSPD1):c.859G>A (p.Val287Ile) rs886055387
NM_002156.5(HSPD1):c.868A>C (p.Arg290=) rs2106075505
NM_002156.5(HSPD1):c.870-3C>T rs1559301137

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