ClinVar Miner

List of variants studied for Robinow-Sorauf syndrome

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000474.4(TWIST1):c.211C>T (p.Gln71Ter) rs104894065
NM_000474.4(TWIST1):c.460dup (p.Arg154fs) rs1585616860
NM_000474.4(TWIST1):c.508dup (p.Ser170fs) rs1788578357

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