ClinVar Miner

List of variants in gene HACE1 studied for spastic paraplegia-severe developmental delay-epilepsy syndrome

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_020771.4(HACE1):c.816+4T>A rs6918700 0.50198
NM_020771.4(HACE1):c.77-4T>C rs9499992 0.40002
NM_020771.4(HACE1):c.2292T>C (p.Phe764=) rs7752614 0.21476
NM_020771.4(HACE1):c.2014+27A>G rs7741145 0.14695
NM_020771.4(HACE1):c.994C>T (p.Arg332Ter) rs759641985 0.00002
NM_020771.4(HACE1):c.1396C>T (p.Gln466Ter) rs1337798545 0.00001
NM_020771.4(HACE1):c.1990C>T (p.Arg664Ter) rs761703540 0.00001
NM_020771.4(HACE1):c.655C>T (p.Arg219Ter) rs869025280 0.00001
NM_020771.4(HACE1):c.805C>T (p.Arg269Ter) rs750371878 0.00001
NC_000006.11:g.(?_105175968)_(105307795_?)del
NC_000006.12:g.104771387TACCTAAAAA[3]
NM_020771.4(HACE1):c.1015A>G (p.Ser339Gly)
NM_020771.4(HACE1):c.1346C>G (p.Ala449Gly) rs2114797044
NM_020771.4(HACE1):c.1351C>T (p.Arg451Trp) rs1455900509
NM_020771.4(HACE1):c.1443C>A (p.Cys481Ter) rs2114793034
NM_020771.4(HACE1):c.145CTA[1] (p.Leu50del)
NM_020771.4(HACE1):c.152C>G (p.Ser51Ter)
NM_020771.4(HACE1):c.1631T>C (p.Met544Thr)
NM_020771.4(HACE1):c.1712C>A (p.Ser571Ter) rs1582418143
NM_020771.4(HACE1):c.1759del (p.His587fs)
NM_020771.4(HACE1):c.1852_1853del (p.Gln618fs) rs751809418
NM_020771.4(HACE1):c.1865-2A>G
NM_020771.4(HACE1):c.2211+3_2211+6del
NM_020771.4(HACE1):c.2242C>T (p.Arg748Ter) rs869025281
NM_020771.4(HACE1):c.2343+12del
NM_020771.4(HACE1):c.239G>A (p.Cys80Tyr) rs1319508199
NM_020771.4(HACE1):c.240C>A (p.Cys80Ter) rs761086584
NM_020771.4(HACE1):c.2443-5_2443-3del rs72218235
NM_020771.4(HACE1):c.2487TCT[1] (p.Leu832del) rs869025283
NM_020771.4(HACE1):c.281A>G (p.Gln94Arg)
NM_020771.4(HACE1):c.326+3A>C
NM_020771.4(HACE1):c.350T>C (p.Leu117Ser)
NM_020771.4(HACE1):c.355G>T (p.Glu119Ter) rs2115167557
NM_020771.4(HACE1):c.402+5G>A rs1316982922
NM_020771.4(HACE1):c.454C>T (p.Gln152Ter) rs869025284
NM_020771.4(HACE1):c.535-686A>G
NM_020771.4(HACE1):c.77-17_77-16insTC rs10635352
NM_020771.4(HACE1):c.859C>T (p.Gln287Ter)

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