ClinVar Miner

List of intergenic variants reported by GeneReviews

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
1 bp del G 7
17q21.31 Microdeletion
GNPTAB:c.1895C>G
NC_000001.10:g.(155160963_155162030)delinsAT
NC_000001.10:g.(155160963_155162030)dupGCCGGCCCCGGGTCC
NC_000001.10:g.(155160963_155162030)insC
NC_000001.10:g.(155160963_155162030)insG
NM_001081563.1(DMPK):c.*224_*226CTG[(5-34)]
NP_000531.2:p.4894Q
NP_000531.2:p.F4860del
NP_000531.2:p.F4906del
NP_000531.2:p.G4893R
NP_000531.2:p.L4647del
SIX3:c.942G>A
Single allele
TGIF1:c.887C>T
c.10_11 ins10bp
c.1180-1181delCT
c.1263+81_1596+?del
c.1308C>T
c.1323C>T
c.1330-1333delTTCC
c.599C>T
c.667_684del(664_681del)
c.[708G>C]+[784C>T]
c.[c.38dupA]+[1571G>A]
del(15)(q15.1-q15.3)
g.96677_99386del2710
mitochondrial DNA deletion
nsv1067844
p.L4796C
p.M2434K

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