ClinVar Miner

List of variants in gene combination CLASP1, RNU4ATAC reported as likely pathogenic for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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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.196-572C>T rs991806266 0.00008
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
NG_029832.1(RNU4ATAC):g.[5030G>A];[5040C>T]
NM_001395891.1(CLASP1):c.196-562G>C
NM_001395891.1(CLASP1):c.196-562G>T rs370715569
NM_001395891.1(CLASP1):c.196-570C>T rs750325275
NM_001395891.1(CLASP1):c.196-583A>C
NM_001395891.1(CLASP1):c.196-589T>G
NM_001395891.1(CLASP1):c.196-594G>A rs139495292
NM_001395891.1(CLASP1):c.196-600C>A
NM_001395891.1(CLASP1):c.196-600C>T rs1032667950
NM_001395891.1(CLASP1):c.196-604C>T rs181195449
NM_001395891.1(CLASP1):c.196-607G>A rs180755563
NM_001395891.1(CLASP1):c.196-670T>A rs982261295
NM_001395891.1(CLASP1):c.196-670T>C rs982261295
NM_001395891.1(CLASP1):c.[196-571C>T];[196-670T>G]

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