ClinVar Miner

List of variants reported as benign for Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_014846.4(WASHC5):c.2770+18_2770+19insG rs11370883 0.99994
NM_014846.4(WASHC5):c.979-20C>T rs12546285 0.18463
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.1764+12A>G rs3765213 0.11313
NM_014846.4(WASHC5):c.186+17G>A rs59134934 0.03280
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.2771-7T>C rs142685897 0.00181
NM_014846.4(WASHC5):c.1818C>T (p.Pro606=) rs140063111 0.00156
NM_014846.4(WASHC5):c.2485C>T (p.Leu829=) rs80242901 0.00128
NM_014846.4(WASHC5):c.655G>A (p.Glu219Lys) rs143719918 0.00127
NM_014846.4(WASHC5):c.1346G>A (p.Arg449Gln) rs202165114 0.00108
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.1605C>T (p.Ile535=) rs143654828 0.00080
NM_014846.4(WASHC5):c.732G>A (p.Pro244=) rs146320386 0.00079
NM_014846.4(WASHC5):c.2668-19C>T rs368313044 0.00038
NM_014846.4(WASHC5):c.12T>C (p.Phe4=) rs202120400 0.00028
NM_014846.4(WASHC5):c.2199+4C>A rs145721086 0.00016
NM_014846.4(WASHC5):c.187-6dup rs745362878
NM_014846.4(WASHC5):c.2851-18del
NM_014846.4(WASHC5):c.333-19A>G rs2384916
NM_014846.4(WASHC5):c.333-19A>T
NM_014846.4(WASHC5):c.711+16A>G
NM_014846.4(WASHC5):c.720G>A (p.Ala240=) rs758215702

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