ClinVar Miner

List of variants reported as uncertain significance for complex neurodevelopmental disorder by Institute of Human Genetics, University of Goettingen

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_015267.4(CUX2):c.3702T>G (p.Asp1234Glu) rs1353211680 0.00001
GRCh37/hg19 2q11.1(chr2:95945437-96259086)x3
NM_000834.5(GRIN2B):c.3352G>T (p.Asp1118Tyr) rs2136404881
NM_001040142.2(SCN2A):c.3869C>T (p.Thr1290Ile) rs1701137468
NM_001040142.2(SCN2A):c.5120T>C (p.Leu1707Pro)
NM_001127222.2(CACNA1A):c.4194C>G (p.Phe1398Leu)
NM_001165963.4(SCN1A):c.1700G>C (p.Arg567Thr) rs1176739172
NM_001326342.2(CELF2):c.1507G>A (p.Gly503Ser)
NM_003024.3(ITSN1):c.2405A>C (p.Glu802Ala)
NM_006160.4(NEUROD2):c.82G>T (p.Glu28Ter)

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