ClinVar Miner

List of variants studied for Roifman syndrome by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001395891.1(CLASP1):c.196-567G>A rs559979281 0.00038
NM_001395891.1(CLASP1):c.196-591C>T rs756026847 0.00009

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