ClinVar Miner

List of variants studied for complex neurodevelopmental disorder by Genomic Medicine Lab, University of California San Francisco

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_019066.5(MAGEL2):c.277C>T (p.Pro93Ser) rs899176705 0.00001
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile) rs886040861
NM_001040142.2(SCN2A):c.2317A>G (p.Thr773Ala) rs1574611024
NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter) rs61753965
NM_001110792.2(MECP2):c.230C>T (p.Ser77Leu) rs61754437
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001127222.2(CACNA1A):c.1435del (p.Ile479fs) rs2145051267
NM_001130438.3(SPTAN1):c.415C>T (p.Arg139Ter) rs1851109762
NM_019066.5(MAGEL2):c.3246del (p.Asn1084fs) rs1595331427

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