ClinVar Miner

List of variants reported as uncertain significance for cognitive impairment with or without cerebellar ataxia

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.1779G>C (p.Glu593Asp) rs760717246 0.00005
NM_001330260.2(SCN8A):c.5719C>T (p.Arg1907Trp) rs760444517 0.00003
NM_001330260.2(SCN8A):c.1519G>C (p.Glu507Gln) rs777851383 0.00002
NM_001330260.2(SCN8A):c.1396G>A (p.Glu466Lys) rs557559740 0.00001
NM_001330260.2(SCN8A):c.2139A>C (p.Glu713Asp) rs1218269439 0.00001
NM_001330260.2(SCN8A):c.3136G>A (p.Ala1046Thr) rs775833241 0.00001
NM_001330260.2(SCN8A):c.3152C>T (p.Ala1051Val) rs376547086 0.00001
NM_001330260.2(SCN8A):c.3164G>A (p.Arg1055Gln) rs756127631 0.00001
NM_001330260.2(SCN8A):c.3449A>C (p.Gln1150Pro) rs1050488287 0.00001
NM_001330260.2(SCN8A):c.457A>C (p.Asn153His) rs796053232 0.00001
NM_001330260.2(SCN8A):c.5479A>G (p.Ile1827Val) rs764115258 0.00001
NM_001330260.2(SCN8A):c.71A>G (p.Asn24Ser) rs769269501 0.00001
NM_001330260.2(SCN8A):c.1264C>A (p.Leu422Met) rs2138748384
NM_001330260.2(SCN8A):c.1403AAG[1] (p.Glu469del)
NM_001330260.2(SCN8A):c.1420C>T (p.Pro474Ser) rs1160066733
NM_001330260.2(SCN8A):c.1676A>G (p.His559Arg)
NM_001330260.2(SCN8A):c.1984C>T (p.Arg662Cys) rs76222829
NM_001330260.2(SCN8A):c.2016A>C (p.Glu672Asp)
NM_001330260.2(SCN8A):c.2167T>G (p.Trp723Gly)
NM_001330260.2(SCN8A):c.2225T>C (p.Leu742Pro)
NM_001330260.2(SCN8A):c.2234T>C (p.Ile745Thr) rs1942593819
NM_001330260.2(SCN8A):c.2685A>C (p.Gln895His)
NM_001330260.2(SCN8A):c.3113A>G (p.Tyr1038Cys)
NM_001330260.2(SCN8A):c.3245A>T (p.Asp1082Val) rs2138868846
NM_001330260.2(SCN8A):c.3367A>C (p.Lys1123Gln) rs1555226186
NM_001330260.2(SCN8A):c.3703G>A (p.Ala1235Thr) rs1942973895
NM_001330260.2(SCN8A):c.3793T>C (p.Cys1265Arg) rs1942975434
NM_001330260.2(SCN8A):c.3820-1G>T rs1373881732
NM_001330260.2(SCN8A):c.3964G>C (p.Gly1322Arg) rs2138904004
NM_001330260.2(SCN8A):c.4082C>G (p.Ser1361Cys)
NM_001330260.2(SCN8A):c.4159A>G (p.Ile1387Val)
NM_001330260.2(SCN8A):c.4282-10C>G rs369145855
NM_001330260.2(SCN8A):c.4972C>T (p.Leu1658Phe) rs1938705231
NM_001330260.2(SCN8A):c.5307C>A (p.Phe1769Leu)
NM_001330260.2(SCN8A):c.5375G>A (p.Trp1792Ter) rs1938715548
NM_001330260.2(SCN8A):c.5620G>C (p.Val1874Leu) rs781602116
NM_001330260.2(SCN8A):c.5740G>A (p.Gly1914Ser)
NM_001330260.2(SCN8A):c.5761A>G (p.Thr1921Ala) rs368796221
NM_001330260.2(SCN8A):c.614+1G>A rs1941433358
NM_001330260.2(SCN8A):c.825del (p.Asn276fs) rs2138735784

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