ClinVar Miner

List of variants reported as pathogenic for complex neurodevelopmental disorder by Pediatrics, MediClubGeorgia

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.5644C>G (p.Arg1882Gly) rs796053166
NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg) rs2057947681
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001165963.4(SCN1A):c.3944_3945del (p.Leu1315fs) rs1692166604
NM_001184880.2(PCDH19):c.463G>C (p.Asp155His) rs796052800
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp) rs760270633
NM_015178.3(RHOBTB2):c.1466G>A (p.Arg489Gln) rs1554504684

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