ClinVar Miner

List of variants in gene DYM studied for bone disorder

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_017653.4(DYM):c.-309G>C rs28364579 0.08044
NM_001353214.3(DYM):c.1914G>C (p.Val638=) rs60818038 0.03594
NM_001353214.3(DYM):c.193+9G>A rs111744206 0.01158
NM_001353214.3(DYM):c.421A>G (p.Ser141Gly) rs61729806 0.01158
NM_001353214.3(DYM):c.342G>A (p.Leu114=) rs35357262 0.00822
NM_001353214.3(DYM):c.*22G>A rs113500346 0.00580
NM_001353214.3(DYM):c.1717C>T (p.Leu573=) rs145279594 0.00174
NM_001353214.3(DYM):c.620+4T>G rs201652921 0.00143
NM_001353214.3(DYM):c.1868G>A (p.Arg623Gln) rs138427861 0.00111
NM_001353214.3(DYM):c.1943A>G (p.Gln648Arg) rs146000214 0.00061
NM_001353214.3(DYM):c.321G>A (p.Leu107=) rs16950519 0.00050
NM_001353214.3(DYM):c.980C>A (p.Ala327Asp) rs147724274 0.00043
NM_017653.6(DYM):c.1461-8T>G rs374658638 0.00024
NM_001353214.3(DYM):c.573A>T (p.Glu191Asp) rs370414289 0.00019
NM_001353214.3(DYM):c.*123G>A rs886053843 0.00011
NM_001353214.3(DYM):c.*12T>C rs45452499 0.00011
NM_001353214.3(DYM):c.1924T>C (p.Phe642Leu) rs151034190 0.00011
NM_001353214.3(DYM):c.1977G>A (p.Leu659=) rs201023000 0.00005
NM_001353214.3(DYM):c.2164G>T (p.Asp722Tyr) rs528865224 0.00005
NM_001353214.3(DYM):c.1344A>G (p.Gln448=) rs77902523 0.00004
NM_001353214.3(DYM):c.1251+12T>C rs374105000 0.00003
NM_001353214.3(DYM):c.1995C>T (p.Gly665=) rs370290857 0.00003
NM_001353214.3(DYM):c.208C>T (p.Arg70Ter) rs768509996 0.00003
NM_001353214.3(DYM):c.920C>T (p.Ala307Val) rs200843715 0.00003
NM_001353214.3(DYM):c.-294C>T rs369624199 0.00002
NM_001353214.3(DYM):c.1867C>T (p.Arg623Ter) rs756877451 0.00002
NM_001353214.3(DYM):c.288-10G>A rs557407004 0.00002
NM_001353214.3(DYM):c.1115T>C (p.Met372Thr) rs886053844 0.00001
NM_001353214.3(DYM):c.1116G>A (p.Met372Ile) rs775476671 0.00001
NM_001353214.3(DYM):c.1405A>T (p.Asn469Tyr) rs120074163 0.00001
NM_001353214.3(DYM):c.1728+2T>C rs2087482291 0.00001
NM_001353214.3(DYM):c.1762C>T (p.Arg588Ter) rs780873164 0.00001
NM_001353214.3(DYM):c.21A>T (p.Arg7Ser) rs765630940 0.00001
NM_001353214.3(DYM):c.422-2A>G rs1568319747 0.00001
NM_001353214.3(DYM):c.610C>T (p.Arg204Ter) rs752868357 0.00001
NM_001353214.3(DYM):c.621-2A>G rs775414124 0.00001
NM_001353214.3(DYM):c.899C>T (p.Ala300Val) rs781028696 0.00001
NM_001353214.3(DYM):c.1049T>G (p.Leu350Arg) rs1260746745
NM_001353214.3(DYM):c.1125+1G>A rs2094993424
NM_001353214.3(DYM):c.1177_1178del (p.His393fs) rs2517730377
NM_001353214.3(DYM):c.1222del (p.Asp408fs) rs2145537667
NM_001353214.3(DYM):c.1252-1G>A rs1568119124
NM_001353214.3(DYM):c.1626-14_1626-4del rs2514909931
NM_001353214.3(DYM):c.1626-2A>G rs2514909662
NM_001353214.3(DYM):c.1650dup (p.His551fs) rs2087498329
NM_001353214.3(DYM):c.1653_1654del (p.His551fs) rs2087496511
NM_001353214.3(DYM):c.1751AAG[1] (p.Glu585del)
NM_001353214.3(DYM):c.1789T>C (p.Cys597Arg) rs120074165
NM_001353214.3(DYM):c.2025+1G>A rs786205511
NM_001353214.3(DYM):c.2043del (p.Lys681fs) rs1471488189
NM_001353214.3(DYM):c.2053G>A (p.Val685Met) rs757286463
NM_001353214.3(DYM):c.259G>A (p.Glu87Lys) rs120074164
NM_001353214.3(DYM):c.297C>T (p.Phe99=) rs886053847
NM_001353214.3(DYM):c.396T>A (p.Tyr132Ter) rs120074162
NM_001353214.3(DYM):c.421+1G>T
NM_001353214.3(DYM):c.42T>G (p.Asn14Lys) rs768630165
NM_001353214.3(DYM):c.445dup (p.Glu149fs) rs2147362866
NM_001353214.3(DYM):c.48C>G (p.Tyr16Ter) rs120074161
NM_001353214.3(DYM):c.54_55insC (p.Lys19fs) rs2148459355
NM_001353214.3(DYM):c.550T>C (p.Ser184Pro) rs2063482690
NM_001353214.3(DYM):c.59T>A (p.Leu20Ter) rs2074694091
NM_001353214.3(DYM):c.705_708dup (p.Pro237fs) rs2063332964
NM_001353214.3(DYM):c.719C>A (p.Ser240Ter) rs767767037
NM_001353214.3(DYM):c.763del (p.Thr255fs) rs1568264929
NM_001353214.3(DYM):c.831T>C (p.Ser277=) rs886053846
NM_001353214.3(DYM):c.916C>T (p.Gln306Ter) rs201540129
NM_001353214.3(DYM):c.947-2A>G rs567638775
NM_001353214.3(DYM):c.95dup (p.Trp33fs) rs1600192503
NM_001353214.3(DYM):c.961C>T (p.Pro321Ser) rs886053845
NM_001353214.3(DYM):c.963del (p.Ser322fs) rs2095000244
NM_001353214.3(DYM):c.99G>A (p.Trp33Ter) rs2524201617

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