ClinVar Miner

List of variants in gene DDR2 reported as uncertain significance for bone development disease

Included ClinVar conditions (618):
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Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_006182.4(DDR2):c.1323G>A (p.Met441Ile) rs34722354 0.01358
NM_006182.4(DDR2):c.699C>T (p.Thr233=) rs56351141 0.00925
NM_006182.4(DDR2):c.2481G>T (p.Leu827=) rs35077871 0.00708
NM_006182.4(DDR2):c.408T>C (p.His136=) rs2271305 0.00463
NM_006182.4(DDR2):c.510C>T (p.Thr170=) rs56313008 0.00399
NM_006182.4(DDR2):c.-27-11G>C rs180854216 0.00226
NM_006182.4(DDR2):c.1099+12A>C rs144350332 0.00170
NM_006182.4(DDR2):c.1509C>T (p.Cys503=) rs144293078 0.00148
NM_006182.4(DDR2):c.*48A>G rs137901988 0.00130
NM_006182.4(DDR2):c.-106G>T rs542849168 0.00041
NM_006182.4(DDR2):c.720C>T (p.Asp240=) rs141801107 0.00031
NM_006182.4(DDR2):c.1389T>C (p.Ser463=) rs141476528 0.00025
NM_006182.4(DDR2):c.476T>C (p.Ile159Thr) rs145611112 0.00024
NM_006182.4(DDR2):c.*16G>A rs199644864 0.00018
NM_006182.4(DDR2):c.672-9C>A rs376919678 0.00016
NM_006182.4(DDR2):c.932G>A (p.Ser311Asn) rs189870832 0.00015
NM_006182.4(DDR2):c.549C>T (p.Tyr183=) rs369267630 0.00014
NM_006182.4(DDR2):c.-247G>A rs1028218034 0.00013
NM_006182.4(DDR2):c.508A>T (p.Thr170Ser) rs201573606 0.00009
NM_006182.4(DDR2):c.2068A>G (p.Met690Val) rs377626332 0.00008
NM_006182.4(DDR2):c.2253C>T (p.Ile751=) rs768825317 0.00007
NM_006182.4(DDR2):c.494G>A (p.Arg165Gln) rs200233661 0.00006
NM_006182.4(DDR2):c.2003G>A (p.Arg668His) rs754868982 0.00005
NM_006182.4(DDR2):c.778C>T (p.Arg260Trp) rs200965319 0.00005
NM_006182.4(DDR2):c.-318C>T rs1269391862 0.00004
NM_006182.4(DDR2):c.716T>C (p.Leu239Pro) rs578015216 0.00004
NM_006182.4(DDR2):c.1508G>C (p.Cys503Ser) rs573628844 0.00003
NM_006182.4(DDR2):c.2397G>C (p.Glu799Asp) rs762649297 0.00003
NM_006182.4(DDR2):c.418-12C>T rs748670636 0.00003
NM_006182.4(DDR2):c.2162A>G (p.Asn721Ser) rs531373389 0.00002
NM_006182.4(DDR2):c.383G>A (p.Arg128His) rs149507401 0.00002
NM_006182.4(DDR2):c.*42C>A rs886045498 0.00001
NM_006182.4(DDR2):c.1142C>G (p.Pro381Arg) rs753466072 0.00001
NM_006182.4(DDR2):c.1831C>T (p.Arg611Ter) rs928746429 0.00001
NM_006182.4(DDR2):c.2237G>A (p.Arg746Gln) rs771259035 0.00001
NM_006182.4(DDR2):c.2255G>A (p.Arg752His) rs1374086542 0.00001
NM_006182.4(DDR2):c.2504A>G (p.Asp835Gly) rs141409742 0.00001
NM_006182.4(DDR2):c.2T>G (p.Met1Arg) rs369864432 0.00001
NM_006182.4(DDR2):c.520A>G (p.Met174Val) rs1384006128 0.00001
NM_006182.4(DDR2):c.833T>A (p.Ile278Asn) rs1261057547 0.00001
NM_006182.4(DDR2):c.919C>T (p.Arg307Cys) rs775988886 0.00001
NM_006182.4(DDR2):c.978C>T (p.Asp326=) rs766364700 0.00001
NM_006182.4(DDR2):c.*152C>A rs1050990901
NM_006182.4(DDR2):c.*171AC[1] rs886045500
NM_006182.4(DDR2):c.*188del rs5778295
NM_006182.4(DDR2):c.*77C>G rs886045499
NM_006182.4(DDR2):c.-219T>C rs2292335
NM_006182.4(DDR2):c.-221C>T rs1656610008
NM_006182.4(DDR2):c.-258G>A rs944192097
NM_006182.4(DDR2):c.1005G>C (p.Thr335=) rs201957075
NM_006182.4(DDR2):c.100C>A (p.Leu34Met) rs1663295489
NM_006182.4(DDR2):c.1421T>C (p.Ile474Thr)
NM_006182.4(DDR2):c.2031C>T (p.Ser677=) rs773962213
NM_006182.4(DDR2):c.215G>T (p.Trp72Leu) rs2102132581
NM_006182.4(DDR2):c.2387A>T (p.Gln796Leu) rs1558083144
NM_006182.4(DDR2):c.243T>C (p.Asp81=) rs138537887
NM_006182.4(DDR2):c.313C>A (p.Arg105Ser) rs759709680
NM_006182.4(DDR2):c.421C>T (p.Leu141=) rs1188435532
NM_006182.4(DDR2):c.691C>T (p.Gln231Ter) rs760194869

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