ClinVar Miner

List of variants reported as uncertain significance for central nervous system malformation by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_025265.4(TSEN2):c.1389C>T (p.Asp463=) rs75288720 0.00287
NM_002547.3(OPHN1):c.702+11A>C rs375325266 0.00125
NM_207346.3(TSEN54):c.1114G>A (p.Val372Met) rs200434678 0.00045
NM_025265.4(TSEN2):c.1013C>G (p.Thr338Arg) rs145142315 0.00038
NM_025265.4(TSEN2):c.322G>T (p.Val108Phe) rs202097247 0.00037
NM_001077446.4(TSEN34):c.468G>C (p.Ser156=) rs376153530 0.00019
NM_025265.4(TSEN2):c.653C>T (p.Pro218Leu) rs201214741 0.00011
NM_025265.4(TSEN2):c.608C>T (p.Thr203Ile) rs35557378 0.00003
NM_207346.3(TSEN54):c.1181A>G (p.Gln394Arg) rs560589823 0.00003
NM_207346.3(TSEN54):c.964C>G (p.Leu322Val) rs587784480 0.00001
NM_001367721.1(CASK):c.1269C>T (p.Asn423=) rs17315800
NM_001367721.1(CASK):c.2039G>C (p.Trp680Ser) rs587783358
NM_001367721.1(CASK):c.617G>A (p.Gly206Asp) rs587783367
NM_002547.3(OPHN1):c.2159-4C>T rs587784233
NM_025265.4(TSEN2):c.1272T>C (p.Ile424=) rs111535594

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