ClinVar Miner

List of variants studied for Roifman syndrome by OMIM

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001395891.1(CLASP1):c.196-567G>A rs559979281 0.00038
NM_001395891.1(CLASP1):c.196-605C>T rs188343279 0.00038
NM_001395891.1(CLASP1):c.196-562G>A rs370715569 0.00025
NM_001395891.1(CLASP1):c.196-591C>T rs756026847 0.00013
NM_001395891.1(CLASP1):c.196-602C>T rs863225422 0.00005
NM_001395891.1(CLASP1):c.196-672A>G rs863225423 0.00002
NM_001395891.1(CLASP1):c.196-570C>T rs750325275

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