ClinVar Miner

List of variants studied for Neurodevelopmental disorder with hypotonia and dysmorphic facies by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_005273.4(GNB2):c.217G>A (p.Ala73Thr)	rs1424516740	0.00001
NM_005273.4(GNB2):c.229G>A (p.Gly77Arg)	rs1804373189
NM_005273.4(GNB2):c.229G>T (p.Gly77Trp)	rs1804373189
NM_005273.4(GNB2):c.265A>G (p.Lys89Glu)	rs2131350514
NM_005273.4(GNB2):c.266A>C (p.Lys89Thr)	rs2131350517

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