ClinVar Miner

List of variants studied for Hereditary spastic paraplegia 8

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Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_014846.4(WASHC5):c.3291G>A (p.Ala1097=) rs11542889 0.14383
NM_014846.4(WASHC5):c.187-3C>T rs16900368 0.13363
NM_014846.4(WASHC5):c.417+11A>G rs2384917 0.13320
NM_014846.4(WASHC5):c.-124-10G>T rs16900369 0.13285
NM_014846.4(WASHC5):c.1764+12A>G rs3765213 0.11313
NM_014846.4(WASHC5):c.1408+7A>G rs16900312 0.02845
NM_014846.4(WASHC5):c.1151-8G>A rs16900335 0.02839
NM_014846.4(WASHC5):c.1245A>G (p.Leu415=) rs10429323 0.02837
NM_014846.4(WASHC5):c.597A>G (p.Pro199=) rs7812319 0.02380
NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=) rs34569226 0.01390
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) rs138407503 0.00618
NM_014846.4(WASHC5):c.867A>C (p.Val289=) rs79464415 0.00491
NM_014846.4(WASHC5):c.2100G>A (p.Val700=) rs148936723 0.00357
NM_014846.4(WASHC5):c.-245C>G rs185375174 0.00277
NM_014846.4(WASHC5):c.*218T>C rs151072408 0.00183
NM_014846.4(WASHC5):c.2771-7T>C rs142685897 0.00181
NM_014846.4(WASHC5):c.655G>A (p.Glu219Lys) rs143719918 0.00127
NM_014846.4(WASHC5):c.647C>T (p.Pro216Leu) rs72720524 0.00098
NM_014846.4(WASHC5):c.1187A>G (p.Lys396Arg) rs142423043 0.00086
NM_014846.4(WASHC5):c.1029A>G (p.Gln343=) rs140523354 0.00083
NM_014846.4(WASHC5):c.-178T>C rs370705310 0.00079
NM_014846.4(WASHC5):c.732G>A (p.Pro244=) rs146320386 0.00079
NM_014846.4(WASHC5):c.316A>G (p.Ile106Val) rs142907217 0.00053
NM_014846.4(WASHC5):c.*78A>G rs188863489 0.00039
NM_014846.4(WASHC5):c.12T>C (p.Phe4=) rs202120400 0.00028
NM_014846.4(WASHC5):c.2017-13T>C rs74458977 0.00021
NM_014846.4(WASHC5):c.-69C>T rs903412802 0.00019
NM_014846.4(WASHC5):c.1178G>A (p.Arg393His) rs151298198 0.00016
NM_014846.4(WASHC5):c.2199+4C>A rs145721086 0.00016
NM_014846.4(WASHC5):c.555T>C (p.Asp185=) rs145934920 0.00016
NM_014846.4(WASHC5):c.405A>G (p.Gly135=) rs529518868 0.00013
NM_014846.4(WASHC5):c.1217A>G (p.Asn406Ser) rs200456170 0.00012
NM_014846.4(WASHC5):c.2332A>G (p.Ile778Val) rs146623998 0.00012
NM_014846.4(WASHC5):c.2098-13G>A rs375720047 0.00011
NM_014846.4(WASHC5):c.639G>C (p.Gln213His) rs141234822 0.00011
NM_014846.4(WASHC5):c.2850+4T>C rs770743674 0.00006
NM_014846.4(WASHC5):c.*337A>G rs567758658 0.00005
NM_014846.4(WASHC5):c.1866T>C (p.Tyr622=) rs202216835 0.00005
NM_014846.4(WASHC5):c.1576G>A (p.Asp526Asn) rs766834356 0.00004
NM_014846.4(WASHC5):c.2076G>A (p.Thr692=) rs746121315 0.00004
NM_014846.4(WASHC5):c.2533A>G (p.Thr845Ala) rs553869211 0.00004
NM_014846.4(WASHC5):c.3210G>A (p.Pro1070=) rs200733182 0.00004
NM_014846.4(WASHC5):c.*177A>C rs553412034 0.00003
NM_014846.4(WASHC5):c.*190C>T rs757307963 0.00003
NM_014846.4(WASHC5):c.-219G>C rs886062658 0.00003
NM_014846.4(WASHC5):c.-253G>A rs533362974 0.00003
NM_014846.4(WASHC5):c.2327G>A (p.Arg776His) rs750463169 0.00003
NM_014846.4(WASHC5):c.3282G>A (p.Gln1094=) rs749478956 0.00003
NM_014846.4(WASHC5):c.1669G>A (p.Ala557Thr) rs749056160 0.00002
NM_014846.4(WASHC5):c.518+6C>T rs1415379081 0.00002
NM_014846.4(WASHC5):c.1211G>A (p.Arg404Gln) rs753133551 0.00001
NM_014846.4(WASHC5):c.1299A>G (p.Ser433=) rs750598437 0.00001
NM_014846.4(WASHC5):c.2199+14A>G rs754889043 0.00001
NM_014846.4(WASHC5):c.2262T>C (p.Ser754=) rs1482343617 0.00001
NM_014846.4(WASHC5):c.2457G>A (p.Thr819=) rs572892084 0.00001
NM_014846.4(WASHC5):c.2627T>C (p.Leu876Ser) rs1289915533 0.00001
NM_014846.4(WASHC5):c.2667+10T>C rs1815997560 0.00001
NM_014846.4(WASHC5):c.3118C>G (p.Pro1040Ala) rs775752911 0.00001
NM_014846.4(WASHC5):c.636C>T (p.Phe212=) rs190007736 0.00001
NM_014846.4(WASHC5):c.885G>A (p.Gly295=) rs1435894101 0.00001
NM_001278464.2(DNM1L):c.253C>G (p.Pro85Ala) rs762401850
NM_013254.4(TBK1):c.290T>A (p.Val97Asp) rs1565813507
NM_014846.4(WASHC5):c.*124A>C rs886062650
NM_014846.4(WASHC5):c.-167C>T rs886062657
NM_014846.4(WASHC5):c.-20A>G rs762683769
NM_014846.4(WASHC5):c.-241G>A rs563795659
NM_014846.4(WASHC5):c.-276G>A rs1224756358
NM_014846.4(WASHC5):c.1025A>C (p.Gln342Pro)
NM_014846.4(WASHC5):c.1120C>T (p.Arg374Ter)
NM_014846.4(WASHC5):c.1340C>T (p.Ser447Leu) rs886062654
NM_014846.4(WASHC5):c.1345C>A (p.Arg449=) rs886062653
NM_014846.4(WASHC5):c.1351A>T (p.Thr451Ser) rs377351903
NM_014846.4(WASHC5):c.1411A>G (p.Asn471Asp) rs80338865
NM_014846.4(WASHC5):c.1465G>T (p.Asp489Tyr) rs1816581809
NM_014846.4(WASHC5):c.1474A>C (p.Thr492Pro) rs2130107479
NM_014846.4(WASHC5):c.1522G>T (p.Val508Phe)
NM_014846.4(WASHC5):c.1747A>G (p.Arg583Gly) rs761801345
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) rs1554593901
NM_014846.4(WASHC5):c.1772C>T (p.Ser591Phe) rs1554593899
NM_014846.4(WASHC5):c.1857G>C (p.Leu619Phe) rs80338866
NM_014846.4(WASHC5):c.1857G>T (p.Leu619Phe) rs80338866
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe) rs80338867
NM_014846.4(WASHC5):c.2009G>A (p.Arg670Gln)
NM_014846.4(WASHC5):c.2052T>G (p.Thr684=) rs886062652
NM_014846.4(WASHC5):c.2086G>A (p.Gly696Ser) rs1060502725
NM_014846.4(WASHC5):c.2087G>A (p.Gly696Asp) rs397515564
NM_014846.4(WASHC5):c.2087G>C (p.Gly696Ala) rs397515564
NM_014846.4(WASHC5):c.2097+3A>G
NM_014846.4(WASHC5):c.2168A>G (p.His723Arg) rs2130055560
NM_014846.4(WASHC5):c.2645T>A (p.Phe882Tyr) rs1815998956
NM_014846.4(WASHC5):c.2849A>G (p.Lys950Arg) rs1815967070
NM_014846.4(WASHC5):c.2939T>C (p.Leu980Pro)
NM_014846.4(WASHC5):c.2950A>G (p.Asn984Asp)
NM_014846.4(WASHC5):c.2954+13G>T rs886062651
NM_014846.4(WASHC5):c.296T>A (p.Phe99Tyr)
NM_014846.4(WASHC5):c.2T>C (p.Met1Thr)
NM_014846.4(WASHC5):c.3065T>C (p.Ile1022Thr) rs150819213
NM_014846.4(WASHC5):c.3182-3C>T
NM_014846.4(WASHC5):c.3200C>T (p.Pro1067Leu) rs149383757
NM_014846.4(WASHC5):c.3424-1G>T rs1815322920
NM_014846.4(WASHC5):c.3438T>C (p.His1146=) rs764539889
NM_014846.4(WASHC5):c.3441G>A (p.Val1147=) rs989931355
NM_014846.4(WASHC5):c.657A>G (p.Glu219=) rs886062655
NM_014846.4(WASHC5):c.711+1G>A
NM_015559.3(SETBP1):c.4771G>A (p.Glu1591Lys) rs759235645
NM_022455.5(NSD1):c.7976C>T (p.Ala2659Val) rs1562312270

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