ClinVar Miner

List of variants studied for Hydrocephalus, nonsyndromic, autosomal recessive 1; Spinocerebellar ataxia type 40

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_001080414.4(CCDC88C):c.2204G>A (p.Arg735His) rs114142372 0.00949
NM_001080414.4(CCDC88C):c.4433T>C (p.Val1478Ala) rs201222692 0.00627
NM_001080414.4(CCDC88C):c.5183T>C (p.Phe1728Ser) rs7145583 0.00602
NM_001080414.4(CCDC88C):c.906G>A (p.Ala302=) rs11851173 0.00565
NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=) rs139544500 0.00494
NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln) rs61745465 0.00451
NM_001080414.4(CCDC88C):c.4287C>T (p.Thr1429=) rs146028766 0.00326
NM_001080414.4(CCDC88C):c.969C>T (p.Asn323=) rs61737660 0.00287
NM_001080414.4(CCDC88C):c.6027G>A (p.Pro2009=) rs200979954 0.00175
NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val) rs200650758 0.00081
NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu) rs201940261 0.00078
NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala) rs201414940 0.00057
NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln) rs200769097 0.00053
NM_001080414.4(CCDC88C):c.1391G>A (p.Arg464His) rs587782989 0.00011
NM_001080414.4(CCDC88C):c.755dup (p.Ala253fs) rs1555422946 0.00001
NM_001080414.4(CCDC88C):c.105_108del (p.Thr36fs)
NM_001080414.4(CCDC88C):c.1085C>T (p.Thr362Ile)
NM_001080414.4(CCDC88C):c.1259T>C (p.Ile420Thr)
NM_001080414.4(CCDC88C):c.1420_1421del (p.Ser474fs)
NM_001080414.4(CCDC88C):c.1637del (p.Glu546fs)
NM_001080414.4(CCDC88C):c.1748C>T (p.Ala583Val)
NM_001080414.4(CCDC88C):c.2206dup (p.Glu736fs)
NM_001080414.4(CCDC88C):c.2903dup (p.Leu968fs)
NM_001080414.4(CCDC88C):c.3013A>T (p.Lys1005Ter)
NM_001080414.4(CCDC88C):c.3074A>G (p.Lys1025Arg)
NM_001080414.4(CCDC88C):c.3166_3167insT (p.Lys1056fs)
NM_001080414.4(CCDC88C):c.3195+1G>T
NM_001080414.4(CCDC88C):c.3310del (p.Leu1104fs)
NM_001080414.4(CCDC88C):c.3358-2A>C
NM_001080414.4(CCDC88C):c.340+1G>T
NM_001080414.4(CCDC88C):c.3404A>G (p.Gln1135Arg) rs1407640264
NM_001080414.4(CCDC88C):c.3550G>T (p.Glu1184Ter)
NM_001080414.4(CCDC88C):c.3733G>A (p.Ala1245Thr)
NM_001080414.4(CCDC88C):c.3796del (p.His1266fs)
NM_001080414.4(CCDC88C):c.4090_4093delinsATT (p.His1364fs)
NM_001080414.4(CCDC88C):c.4096G>T (p.Glu1366Ter)
NM_001080414.4(CCDC88C):c.4113-1_4117del
NM_001080414.4(CCDC88C):c.4442-2A>G
NM_001080414.4(CCDC88C):c.4651C>G (p.Leu1551Val)
NM_001080414.4(CCDC88C):c.4768+1G>T
NM_001080414.4(CCDC88C):c.4793G>A (p.Arg1598Gln)
NM_001080414.4(CCDC88C):c.483+1G>T
NM_001080414.4(CCDC88C):c.5101C>T (p.Arg1701Ter)
NM_001080414.4(CCDC88C):c.5132dup (p.Gln1712fs)
NM_001080414.4(CCDC88C):c.5209G>A (p.Ala1737Thr)
NM_001080414.4(CCDC88C):c.5250C>G (p.Tyr1750Ter)
NM_001080414.4(CCDC88C):c.5273_5276del (p.Thr1758fs)
NM_001080414.4(CCDC88C):c.5449G>A (p.Gly1817Arg)
NM_001080414.4(CCDC88C):c.5522_5525del (p.Gly1841fs)
NM_001080414.4(CCDC88C):c.5695del (p.Leu1899fs) rs1396400378
NM_001080414.4(CCDC88C):c.613G>T (p.Glu205Ter)
NM_001080414.4(CCDC88C):c.739G>A (p.Glu247Lys)
NM_001080414.4(CCDC88C):c.77C>T (p.Pro26Leu)
NM_001080414.4(CCDC88C):c.934C>T (p.Arg312Ter) rs369384363
NM_001080414.4(CCDC88C):c.99_100insGGTT (p.Asn34delinsGlyTer)

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