ClinVar Miner

List of variants studied for Roifman syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Total variants: 7
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HGVS dbSNP
NM_015282.3(CLASP1):c.196-562G>A rs370715569
NM_015282.3(CLASP1):c.196-570C>T rs750325275
NM_015282.3(CLASP1):c.196-591C>T rs756026847
NM_015282.3(CLASP1):c.196-605C>T rs188343279
NM_015282.3(CLASP1):c.196-672A>G rs863225423
NR_023343.1(RNU4ATAC):n.13C>T rs559979281
NR_023343.1(RNU4ATAC):n.48G>A rs863225422

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