ClinVar Miner

List of variants in gene CWF19L1 studied for autosomal recessive congenital cerebellar ataxia

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_018294.6(CWF19L1):c.940C>T (p.His314Tyr) rs151250620 0.00024
NM_018294.6(CWF19L1):c.665G>A (p.Arg222Gln) rs772697259 0.00008
NM_018294.6(CWF19L1):c.964+1G>A rs587780326 0.00007
NM_018294.6(CWF19L1):c.349G>T (p.Glu117Ter) rs201230582 0.00004
NM_018294.6(CWF19L1):c.1063A>G (p.Lys355Glu) rs1176487325 0.00001
NM_018294.6(CWF19L1):c.1045-2A>C
NM_018294.6(CWF19L1):c.1045T>G (p.Cys349Gly) rs1846515941
NM_018294.6(CWF19L1):c.1070G>T (p.Gly357Val)
NM_018294.6(CWF19L1):c.1114C>T (p.Gln372Ter) rs1846512047
NM_018294.6(CWF19L1):c.1150G>T (p.Glu384Ter) rs1554902760
NM_018294.6(CWF19L1):c.1158dup (p.Lys387fs) rs1589611043
NM_018294.6(CWF19L1):c.1375-2A>G
NM_018294.6(CWF19L1):c.1394C>T (p.Ala465Val)
NM_018294.6(CWF19L1):c.187+1G>T rs1330992740
NM_018294.6(CWF19L1):c.452T>G (p.Ile151Ser)
NM_018294.6(CWF19L1):c.467del (p.Pro156fs) rs879255654
NM_018294.6(CWF19L1):c.520A>T (p.Lys174Ter) rs2134307362
NM_018294.6(CWF19L1):c.605dup (p.Tyr202Ter) rs1589625941
NM_018294.6(CWF19L1):c.708+294_1044+1540del
NM_018294.6(CWF19L1):c.820dup (p.Ser274fs)
NM_018294.6(CWF19L1):c.942del (p.Pro315fs) rs749679347
NM_018294.6(CWF19L1):c.946A>T (p.Lys316Ter) rs879255653

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