ClinVar Miner

List of intergenic variants reported as pathogenic by GeneReviews

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Total variants: 42
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HGVS dbSNP
1 bp del G 7
17q21.31 Microdeletion
LRG_766p1:p.F4808P
LRG_766p1:p.G4638N
LRG_766p1:p.G4890R
LRG_766p1:p.G4899R
LRG_766p1:p.N4939Q
LRG_766p1:p.Q160G
LRG_766p1:p.Q474H
LRG_766p1:p.Q512K
LRG_766p1:p.R146C
LRG_766p1:p.R2434H
LRG_766p1:p.V4849R
NG_011801.1:g.73667+?_86672del
NM_000142.4:c.783A>C
NM_000193.2:c.1308C>T
NM_000784.3:c.10_11 ins10bp
NM_000784.3:c.1146_1151delins
NM_000784.3:c.1180-1181delCT
NM_000784.3:c.1263+81_1596+?del
NM_000784.3:c.1323C>T
NM_000784.3:c.1330-1333delTTCC
NM_000784.3:c.599C>T
NM_001007026.1:c.1462CAG[(48_93)]
NM_001081563.1:c.*224_*226[(50-?)]
NP_000133.1(FGFR3):p.Gly65Arg
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
Single allele
c.667_684del(664_681del)
c.725G>A
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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