ClinVar Miner

List of variants in gene C19orf12 reported as pathogenic for central nervous system disorder

Included ClinVar conditions (2490):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu) rs146170087 0.00094
NM_031448.6(C19orf12):c.154G>C (p.Ala52Pro) rs376103979 0.00013
NM_031448.6(C19orf12):c.-2C>T rs397514477 0.00003
NM_031448.6(C19orf12):c.124G>A (p.Gly42Arg) rs200133991 0.00002
NM_031448.6(C19orf12):c.161-2del rs1352744778 0.00001
NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg) rs515726205 0.00001
NM_031448.6(C19orf12):c.215C>T (p.Pro72Leu) rs201987973 0.00001
NM_001031726.3(C19orf12):c.199del rs398122409
NM_001031726.4(C19orf12):c.164_166delGGG rs398122409
NM_031448.6(C19orf12):c.-10G>C rs1424291552
NM_031448.6(C19orf12):c.105_106del (p.Ala37fs)
NM_031448.6(C19orf12):c.161G>A (p.Gly54Glu) rs752450983
NM_031448.6(C19orf12):c.171_181del (p.Gly58fs) rs515726204
NM_031448.6(C19orf12):c.182dup (p.Leu61fs) rs2145623001
NM_031448.6(C19orf12):c.194_204del (p.Met65fs) rs1599534394
NM_031448.6(C19orf12):c.205C>T (p.Gln69Ter) rs1064797235
NM_031448.6(C19orf12):c.225_226delinsTGGAGGAACAGT (p.Gln75fs) rs797045423
NM_031448.6(C19orf12):c.232_233del (p.Met78fs) rs1599534276
NM_031448.6(C19orf12):c.267del (p.Phe89fs)
NM_031448.6(C19orf12):c.303G>A (p.Trp101Ter) rs1555714808
NM_031448.6(C19orf12):c.362T>A (p.Leu121Gln) rs387907173
NM_031448.6(C19orf12):c.371dup (p.Met124fs) rs1568326754

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