ClinVar Miner

List of variants reported as uncertain significance for chromosome 2P16.3 deletion syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (2):

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP
NM_001330078.2(NRXN1):c.3365-109902C>T	rs113067443
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser)	rs200792504
NM_001330078.2(NRXN1):c.600C>T (p.Gly200=)	rs201481698
NM_001330078.2(NRXN1):c.665_673dup (p.Glu222_Glu224dup)	rs774230140

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