ClinVar Miner

List of variants studied for Coffin-Siris syndrome 10 by OMIM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_003107.3(SOX4):c.130_133delinsCGCT (p.Gly44_Lys45delinsArgTer) rs2532639089
NM_003107.3(SOX4):c.1333G>T (p.Glu445Ter) rs2532642024
NM_003107.3(SOX4):c.176T>G (p.Ile59Ser) rs1582601669
NM_003107.3(SOX4):c.198C>A (p.Phe66Leu) rs1334099693
NM_003107.3(SOX4):c.315G>T (p.Lys105Asn) rs1582601747
NM_003107.3(SOX4):c.334G>C (p.Ala112Pro) rs1464282327

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