ClinVar Miner

List of variants reported as pathogenic for central nervous system malformation by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (164):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707 0.00006
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg) rs147391618 0.00006
NM_000435.3(NOTCH3):c.6405_6406del (p.Leu2137fs)
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001134831.2(AHI1):c.1420del (p.Ile474fs) rs1369440486
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369
NM_001368809.2(AMPD2):c.1198C>T (p.Gln400Ter) rs1011286644
NM_001378615.1(CC2D2A):c.2710G>T (p.Glu904Ter)
NM_001378615.1(CC2D2A):c.4256del (p.Gly1419fs) rs772110399
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001759.4(CCND2):c.808A>T (p.Lys270Ter) rs587777619
NM_001759.4(CCND2):c.838A>C (p.Thr280Pro)
NM_004958.4(MTOR):c.5930C>A (p.Thr1977Lys) rs587777893
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_005559.4(LAMA1):c.6333dup (p.Gln2112fs)
NM_006218.4(PIK3CA):c.1132T>C (p.Cys378Arg) rs1724507777
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln) rs121913287
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_025077.4(TOE1):c.940_941del (p.Gln314fs) rs780563835
NM_025114.4(CEP290):c.7282_7286dup (p.Tyr2429Ter) rs2136546576

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