ClinVar Miner

List of variants in gene USP8 reported as likely benign for hereditary spastic paraplegia

Included ClinVar conditions (140):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_005154.5(USP8):c.634G>A (p.Asp212Asn) rs150245386 0.00150
NM_005154.5(USP8):c.250-15T>C rs369842951 0.00043
NM_005154.5(USP8):c.1434A>G (p.Gln478=) rs754921595 0.00031
NM_005154.5(USP8):c.1365C>T (p.Leu455=) rs139912757 0.00029
NM_005154.5(USP8):c.1148C>T (p.Pro383Leu) rs755896571 0.00016
NM_005154.5(USP8):c.1872C>T (p.Asp624=) rs375855680 0.00016
NM_005154.5(USP8):c.541+9G>A rs141310097 0.00014
NM_005154.5(USP8):c.762G>A (p.Glu254=) rs370876235 0.00011
NM_005154.5(USP8):c.2331T>C (p.Thr777=) rs187703744 0.00006
NM_005154.5(USP8):c.36C>T (p.Tyr12=) rs141886945 0.00005
NM_005154.5(USP8):c.2391C>T (p.Asn797=) rs199814360 0.00004
NM_005154.5(USP8):c.1090T>C (p.Leu364=) rs750843415 0.00001
NM_005154.5(USP8):c.1840C>T (p.Leu614=) rs745444234 0.00001
NM_005154.5(USP8):c.2121T>C (p.Asp707=) rs767210381 0.00001
NM_005154.5(USP8):c.2235-9C>T rs374691987 0.00001
NM_005154.5(USP8):c.564A>G (p.Leu188=) rs534878262 0.00001
NM_005154.5(USP8):c.104+17G>A
NM_005154.5(USP8):c.104+20A>G
NM_005154.5(USP8):c.1053G>A (p.Thr351=) rs1196856326
NM_005154.5(USP8):c.1218+17A>T
NM_005154.5(USP8):c.1219-20C>G
NM_005154.5(USP8):c.1299A>G (p.Gln433=)
NM_005154.5(USP8):c.1330C>T (p.Arg444Cys) rs148244041
NM_005154.5(USP8):c.1620C>T (p.Thr540=)
NM_005154.5(USP8):c.1692C>G (p.Ala564=) rs2141304977
NM_005154.5(USP8):c.1773A>C (p.Thr591=) rs370736010
NM_005154.5(USP8):c.1878C>T (p.Thr626=)
NM_005154.5(USP8):c.1891-17T>A
NM_005154.5(USP8):c.1896A>G (p.Gln632=)
NM_005154.5(USP8):c.1947A>G (p.Pro649=)
NM_005154.5(USP8):c.1972-20T>G
NM_005154.5(USP8):c.2235-20G>T
NM_005154.5(USP8):c.2307T>C (p.Phe769=) rs2141320965
NM_005154.5(USP8):c.2383C>T (p.Leu795=) rs1595985288
NM_005154.5(USP8):c.297C>A (p.Val99=) rs183341645
NM_005154.5(USP8):c.297C>T (p.Val99=)
NM_005154.5(USP8):c.499-13T>C
NM_005154.5(USP8):c.542-19T>C

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