ClinVar Miner

List of variants in gene DDR2 reported as pathogenic for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 1q23.3(chr1:162748370-162748520)
NM_006182.4(DDR2):c.2138C>T (p.Thr713Ile) rs121964865
NM_006182.4(DDR2):c.2177T>G (p.Ile726Arg) rs121964864
NM_006182.4(DDR2):c.2254C>T (p.Arg752Cys) rs121964863
NM_006182.4(DDR2):c.2283+1G>A rs1571325076
NM_006182.4(DDR2):c.337G>A (p.Glu113Lys) rs397514747

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