ClinVar Miner

List of variants in gene combination CLASP1, RNU4ATAC reported as pathogenic for bone development disease

Included ClinVar conditions (614):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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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
NR_023343.1:n.30G>A rs374299350 0.00005
NM_001395891.1(CLASP1):c.196-678C>T rs544312701 0.00004
NM_001395891.1(CLASP1):c.196-672A>G rs863225423 0.00002
NM_001395891.1(CLASP1):c.196-571C>T rs765906028 0.00001
NM_001395891.1(CLASP1):c.196-570C>T rs750325275
NM_001395891.1(CLASP1):c.196-604C>G rs181195449
NM_001395891.1(CLASP1):c.196-604C>T rs181195449
NM_001395891.1(CLASP1):c.196-607G>C rs180755563
NM_001395891.1(CLASP1):c.196-609C>T rs575472572
NM_001395891.1(CLASP1):c.196-620C>G rs377619732
NM_001395891.1(CLASP1):c.196-665C>T rs763500364

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