ClinVar Miner

List of variants in gene FA2H reported as likely benign for Spastic paraplegia

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Gene type:
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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_024306.5(FA2H):c.570C>A (p.Thr190=) rs138892784 0.00120
NM_024306.5(FA2H):c.444G>T (p.Pro148=) rs138087787 0.00057
NM_024306.5(FA2H):c.337C>T (p.Arg113Trp) rs141276237 0.00053
NM_024306.5(FA2H):c.540G>T (p.Val180=) rs150423523 0.00027
NM_024306.5(FA2H):c.271-8C>A rs199610820 0.00021
NM_024306.5(FA2H):c.925G>A (p.Val309Ile) rs150427439 0.00017
NM_024306.5(FA2H):c.1112C>T (p.Thr371Met) rs141854925 0.00016
NM_024306.5(FA2H):c.613+14C>G rs377183717 0.00016
NM_024306.5(FA2H):c.614-7C>G rs377171975 0.00016
NM_024306.5(FA2H):c.969G>A (p.Pro323=) rs144071567 0.00014
NM_024306.5(FA2H):c.798C>T (p.Asp266=) rs771402018 0.00013
NM_024306.5(FA2H):c.471C>G (p.His157Gln) rs146060468 0.00012
NM_024306.5(FA2H):c.786+7G>A rs368669121 0.00010
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser) rs199815871 0.00010
NM_024306.5(FA2H):c.733G>A (p.Asp245Asn) rs201126702 0.00007
NM_024306.5(FA2H):c.423C>T (p.Tyr141=) rs201250822 0.00006
NM_024306.5(FA2H):c.924C>T (p.Tyr308=) rs780860426 0.00005
NM_024306.5(FA2H):c.1071C>T (p.Tyr357=) rs558457701 0.00003
NM_024306.5(FA2H):c.531G>A (p.Val177=) rs775888031 0.00003
NM_024306.5(FA2H):c.675C>G (p.Leu225=) rs371803211 0.00003
NM_024306.5(FA2H):c.786+9G>A rs752131780 0.00002
NM_024306.5(FA2H):c.1060T>C (p.Leu354=) rs372391824 0.00001
NM_024306.5(FA2H):c.1086C>T (p.Leu362=) rs923262192 0.00001
NM_024306.5(FA2H):c.285C>T (p.Asn95=) rs772718168 0.00001
NM_024306.5(FA2H):c.590G>A (p.Arg197Gln) rs771625273 0.00001
NM_024306.5(FA2H):c.600G>A (p.Thr200=) rs774718977 0.00001
NM_024306.5(FA2H):c.633C>T (p.Pro211=) rs761379296 0.00001
NM_024306.5(FA2H):c.786+17C>T rs776399428 0.00001
NM_024306.5(FA2H):c.831C>T (p.Ala277=) rs541507213 0.00001
NM_024306.5(FA2H):c.834C>T (p.Ser278=) rs890278057 0.00001
NM_024306.5(FA2H):c.1008C>T (p.His336=)
NM_024306.5(FA2H):c.1039+11G>A
NM_024306.5(FA2H):c.1039+14T>G
NM_024306.5(FA2H):c.1039+18C>T
NM_024306.5(FA2H):c.1040-18G>A
NM_024306.5(FA2H):c.1040-5T>G
NM_024306.5(FA2H):c.1104C>T (p.His368=)
NM_024306.5(FA2H):c.1113G>A (p.Thr371=)
NM_024306.5(FA2H):c.216C>T (p.Asn72=)
NM_024306.5(FA2H):c.271-12T>A rs1314200047
NM_024306.5(FA2H):c.271-12T>G rs1314200047
NM_024306.5(FA2H):c.271-14T>C
NM_024306.5(FA2H):c.342C>T (p.Phe114=)
NM_024306.5(FA2H):c.363+17G>A
NM_024306.5(FA2H):c.364-4G>A
NM_024306.5(FA2H):c.364-9C>T
NM_024306.5(FA2H):c.367C>T (p.Leu123=)
NM_024306.5(FA2H):c.447G>T (p.Val149=)
NM_024306.5(FA2H):c.506+10T>G
NM_024306.5(FA2H):c.507-16G>C rs1471422962
NM_024306.5(FA2H):c.507-19C>A rs2144616111
NM_024306.5(FA2H):c.585C>T (p.Asn195=) rs940374724
NM_024306.5(FA2H):c.621G>A (p.Thr207=)
NM_024306.5(FA2H):c.624G>A (p.Val208=)
NM_024306.5(FA2H):c.648C>G (p.Pro216=)
NM_024306.5(FA2H):c.648C>T (p.Pro216=) rs762526718
NM_024306.5(FA2H):c.669A>C (p.Thr223=)
NM_024306.5(FA2H):c.675C>T (p.Leu225=)
NM_024306.5(FA2H):c.786+11C>T
NM_024306.5(FA2H):c.786+15G>A
NM_024306.5(FA2H):c.786+16T>G
NM_024306.5(FA2H):c.786+8G>T
NM_024306.5(FA2H):c.803C>T (p.Ser268Phe)
NM_024306.5(FA2H):c.813C>G (p.Val271=)
NM_024306.5(FA2H):c.843C>T (p.Ile281=)
NM_024306.5(FA2H):c.846C>G (p.Gly282=) rs370973830
NM_024306.5(FA2H):c.846C>T (p.Gly282=) rs370973830
NM_024306.5(FA2H):c.849C>T (p.Val283=) rs2144601881
NM_024306.5(FA2H):c.858G>A (p.Leu286=)
NM_024306.5(FA2H):c.870C>T (p.Leu290=)
NM_024306.5(FA2H):c.906G>A (p.Ala302=)
NM_024306.5(FA2H):c.969G>T (p.Pro323=)

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