ClinVar Miner

List of variants reported as likely pathogenic by Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_021954.4(GJA3):c.563A>G (p.Asn188Ser)	rs140332366	0.00001
NM_000180.4(GUCY2D):c.144del (p.Ala49fs)	rs1567956946
NM_012186.3(FOXE3):c.289A>G (p.Ile97Val)	rs774505755

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