ClinVar Miner

List of variants reported as uncertain significance for complex neurodevelopmental disorder by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

Included ClinVar conditions (295):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_002693.3(POLG):c.678G>C (p.Gln226His) rs147282197 0.00056
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=) rs141695705 0.00003
NM_001330260.2(SCN8A):c.297A>C (p.Arg99Ser) rs1565885985
NM_001482.3(GATM):c.367G>A (p.Ala123Thr) rs1566840902
NM_014795.4(ZEB2):c.3267A>C (p.Glu1089Asp) rs1553960775
NM_130839.5(UBE3A):c.1423A>G (p.Met475Val) rs864309507

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