ClinVar Miner

List of variants reported as likely pathogenic for complex neurodevelopmental disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (295):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.1495T>C (p.Ter499Arg) rs267608337
NM_001205293.3(CACNA1E):c.4004A>T (p.Asp1335Val) rs1658058398
NM_001330260.2(SCN8A):c.4007T>C (p.Ile1336Thr) rs1938093232
NM_001330260.2(SCN8A):c.5333A>G (p.Asp1778Gly) rs1938714598
NM_002641.4(PIGA):c.355C>T (p.Arg119Trp) rs587777396
NM_012479.4(YWHAG):c.578C>T (p.Ala193Val)
NM_016373.4(WWOX):c.409+1G>C rs1060502727

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