ClinVar Miner

List of variants studied for intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome by New York Genome Center

Included ClinVar conditions (1):

Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006565.4(CTCF):c.203C>G (p.Pro68Arg)	rs752391941
NM_006565.4(CTCF):c.529A>G (p.Thr177Ala)	rs1430339540
NM_006565.4(CTCF):c.615_618del (p.Lys206fs)	rs1555534147

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