ClinVar Miner

List of variants reported as uncertain significance for complex neurodevelopmental disorder by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001205293.3(CACNA1E):c.2108T>G (p.Val703Gly) rs1572706648
NM_004408.4(DNM1):c.1493+5G>A rs752004261
NM_006160.4(NEUROD2):c.488T>C (p.Leu163Pro) rs2144812147
NM_018133.4(MSL2):c.694_697del (p.Ser232fs) rs1576352885
NM_022786.3(ARV1):c.674-2A>T rs1192627743

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