ClinVar Miner

List of variants reported as uncertain significance for autism, susceptiblity to by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala) rs148453565 0.00151
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994 0.00030
NM_014141.6(CNTNAP2):c.2242G>T (p.Asp748Tyr) rs371691712 0.00016
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346 0.00010
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884 0.00004
NM_014141.6(CNTNAP2):c.676C>A (p.Leu226Met) rs372345438 0.00003
NM_014141.6(CNTNAP2):c.324T>C (p.Asp108=) rs756947754 0.00002
NM_014141.6(CNTNAP2):c.3010G>A (p.Asp1004Asn) rs748508785 0.00001
NM_001110792.2(MECP2):c.991G>A (p.Val331Met) rs1569548388

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