ClinVar Miner

List of variants in gene DYM studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 271
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HGVS dbSNP gnomAD frequency
NM_001353214.3(DYM):c.1728+178C>T rs7231453 0.75276
NM_001353214.3(DYM):c.1252-328G>C rs526074 0.69305
NM_001353214.3(DYM):c.-53-211C>T rs8089127 0.57921
NM_001353214.3(DYM):c.421+168C>G rs10775493 0.54549
NM_001353214.3(DYM):c.1366-174A>T rs565387 0.16422
NM_001353214.3(DYM):c.1729-78G>C rs7240784 0.15772
NM_001353214.3(DYM):c.1251+131T>A rs476044 0.15599
NM_001353214.3(DYM):c.2026-130T>C rs45588531 0.14083
NM_001353214.3(DYM):c.947-170G>A rs11660853 0.10383
NM_001353214.3(DYM):c.621-167A>C rs73445714 0.10377
NM_001353214.3(DYM):c.494+17C>T rs79958143 0.08728
NM_001353214.3(DYM):c.140+104G>A rs12456754 0.08726
NM_001353214.3(DYM):c.-53-308G>A rs76970537 0.08706
NM_001353214.3(DYM):c.495-287T>G rs78865592 0.08027
NM_001353214.3(DYM):c.763+278A>G rs74694639 0.08016
NM_001353214.3(DYM):c.141-151del rs76000822 0.07839
NM_017653.4(DYM):c.-309G>C rs28364579 0.07544
NM_001353214.3(DYM):c.2026-298G>C rs895670 0.07481
NM_001353214.3(DYM):c.2026-88G>A rs895669 0.07319
NM_001353214.3(DYM):c.1365+117C>T rs2276200 0.05564
NM_001353214.3(DYM):c.1626-101del rs151119533 0.05548
NM_001353214.3(DYM):c.1626-303C>T rs78846435 0.03963
NM_001353214.3(DYM):c.1914G>C (p.Val638=) rs60818038 0.03859
NM_001353214.3(DYM):c.422-290G>A rs58434021 0.03789
NM_001353214.3(DYM):c.-53-309C>T rs140069085 0.03521
NM_001353214.3(DYM):c.1126-224A>G rs8087374 0.03089
NM_001353214.3(DYM):c.1365+154G>A rs57601123 0.02703
NM_001353214.3(DYM):c.1126-72A>T rs116154576 0.01903
NM_001353214.3(DYM):c.193+9G>A rs111744206 0.01221
NM_001353214.3(DYM):c.421A>G (p.Ser141Gly) rs61729806 0.01220
NM_001353214.3(DYM):c.342G>A (p.Leu114=) rs35357262 0.00822
NM_001353214.3(DYM):c.2026-30G>A rs75309715 0.00792
NM_001353214.3(DYM):c.*22G>A rs113500346 0.00614
NM_001353214.3(DYM):c.500T>A (p.Ile167Asn) rs75854087 0.00296
NM_001353214.3(DYM):c.1717C>T (p.Leu573=) rs145279594 0.00174
NM_017653.6(DYM):c.140+8A>T rs199833534 0.00153
NM_001353214.3(DYM):c.620+4T>G rs201652921 0.00148
NM_001353214.3(DYM):c.1868G>A (p.Arg623Gln) rs138427861 0.00113
NM_001353214.3(DYM):c.946+7G>A rs150849326 0.00076
NM_001353214.3(DYM):c.1943A>G (p.Gln648Arg) rs146000214 0.00065
NM_001353214.3(DYM):c.2172C>T (p.Asp724=) rs201928717 0.00052
NM_001353214.3(DYM):c.1196T>C (p.Ile399Thr) rs145408029 0.00046
NM_001353214.3(DYM):c.980C>A (p.Ala327Asp) rs147724274 0.00044
NM_001353214.3(DYM):c.321G>A (p.Leu107=) rs16950519 0.00032
NM_017653.6(DYM):c.1461-8T>G rs374658638 0.00026
NM_001353214.3(DYM):c.140+12C>T rs201074754 0.00024
NM_001353214.3(DYM):c.316G>A (p.Ala106Thr) rs150635814 0.00014
NM_001353214.3(DYM):c.534A>G (p.Thr178=) rs775696326 0.00014
NM_001353214.3(DYM):c.1383A>C (p.Thr461=) rs148421970 0.00013
NM_001353214.3(DYM):c.276A>G (p.Ala92=) rs200169598 0.00013
NM_001353214.3(DYM):c.957T>C (p.Pro319=) rs542338974 0.00013
NM_001353214.3(DYM):c.1924T>C (p.Phe642Leu) rs151034190 0.00011
NM_001353214.3(DYM):c.573A>T (p.Glu191Asp) rs370414289 0.00011
NM_001353214.3(DYM):c.1424G>A (p.Arg475His) rs377383617 0.00010
NM_001353214.3(DYM):c.658T>C (p.Tyr220His) rs144640085 0.00010
NM_001353214.3(DYM):c.1033T>A (p.Ser345Thr) rs376846468 0.00009
NM_001353214.3(DYM):c.281G>A (p.Cys94Tyr) rs1049649508 0.00009
NM_001353214.3(DYM):c.810G>A (p.Ala270=) rs185475643 0.00009
NM_001353214.3(DYM):c.492C>T (p.Leu164=) rs368387766 0.00008
NM_001353214.3(DYM):c.2003C>T (p.Ala668Val) rs201477312 0.00006
NM_001353214.3(DYM):c.5G>A (p.Gly2Glu) rs751943522 0.00006
NM_001353214.3(DYM):c.809C>T (p.Ala270Val) rs753827775 0.00006
NM_001353214.3(DYM):c.2129A>C (p.Tyr710Ser) rs772514587 0.00005
NM_001353214.3(DYM):c.1344A>G (p.Gln448=) rs77902523 0.00004
NM_001353214.3(DYM):c.1977G>A (p.Leu659=) rs201023000 0.00004
NM_001353214.3(DYM):c.207T>C (p.Pro69=) rs145889194 0.00004
NM_001353214.3(DYM):c.346G>T (p.Val116Leu) rs147460002 0.00004
NM_001353214.3(DYM):c.348G>C (p.Val116=) rs1375073183 0.00004
NM_001353214.3(DYM):c.838C>T (p.Leu280=) rs372271060 0.00004
NM_001353214.3(DYM):c.935A>G (p.Lys312Arg) rs769712199 0.00004
NM_001353214.3(DYM):c.943C>G (p.Gln315Glu) rs897630711 0.00004
NM_001353214.3(DYM):c.963C>T (p.Pro321=) rs1259996232 0.00004
NM_001353214.3(DYM):c.1251+12T>C rs374105000 0.00003
NM_001353214.3(DYM):c.1792C>T (p.Leu598=) rs758909099 0.00003
NM_001353214.3(DYM):c.1827A>G (p.Val609=) rs794727149 0.00003
NM_001353214.3(DYM):c.1912-15C>T rs764087116 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.233T>G (p.Ile78Ser) rs770135743 0.00003
NM_001353214.3(DYM):c.781T>C (p.Phe261Leu) rs770289755 0.00003
NM_001353214.3(DYM):c.1125+19A>T rs929723900 0.00002
NM_001353214.3(DYM):c.1157T>C (p.Val386Ala) rs761679030 0.00002
NM_001353214.3(DYM):c.1230C>T (p.Phe410=) rs746340568 0.00002
NM_001353214.3(DYM):c.1460+15T>C rs776298453 0.00002
NM_001353214.3(DYM):c.1884T>G (p.Phe628Leu) rs371724364 0.00002
NM_001353214.3(DYM):c.288-10G>A rs557407004 0.00002
NM_001353214.3(DYM):c.552C>A (p.Ser184=) rs374489890 0.00002
NM_001353214.3(DYM):c.845A>G (p.Asn282Ser) rs773725778 0.00002
NM_017653.6(DYM):c.1746+9A>G rs147083343 0.00002
NM_001353214.3(DYM):c.1090A>G (p.Thr364Ala) rs774590258 0.00001
NM_001353214.3(DYM):c.1282C>T (p.Arg428Ter) rs771414481 0.00001
NM_001353214.3(DYM):c.1366-8C>G rs374291628 0.00001
NM_001353214.3(DYM):c.1433A>G (p.His478Arg) rs376581531 0.00001
NM_001353214.3(DYM):c.159G>A (p.Leu53=) rs774446496 0.00001
NM_001353214.3(DYM):c.1654A>G (p.Asn552Asp) rs367818401 0.00001
NM_001353214.3(DYM):c.1659A>G (p.Lys553=) rs1391867168 0.00001
NM_001353214.3(DYM):c.1729-5A>G rs755930952 0.00001
NM_001353214.3(DYM):c.1762C>T (p.Arg588Ter) rs780873164 0.00001
NM_001353214.3(DYM):c.1849G>A (p.Asp617Asn) rs769667648 0.00001
NM_001353214.3(DYM):c.1981A>G (p.Ile661Val) rs752865908 0.00001
NM_001353214.3(DYM):c.271T>C (p.Ser91Pro) rs139920124 0.00001
NM_001353214.3(DYM):c.280T>G (p.Cys94Gly) rs1441624531 0.00001
NM_001353214.3(DYM):c.421+8T>C rs1367383452 0.00001
NM_001353214.3(DYM):c.422G>A (p.Ser141Asn) rs148059981 0.00001
NM_001353214.3(DYM):c.561C>G (p.Leu187=) rs1410371339 0.00001
NM_001353214.3(DYM):c.620+12C>T rs749112988 0.00001
NM_001353214.3(DYM):c.621-2A>G rs775414124 0.00001
NM_001353214.3(DYM):c.665T>G (p.Phe222Cys) rs1568265491 0.00001
NM_001353214.3(DYM):c.752C>T (p.Ser251Leu) rs774748558 0.00001
NM_001353214.3(DYM):c.778G>A (p.Val260Ile) rs1599132493 0.00001
NM_001353214.3(DYM):c.915A>G (p.Arg305=) rs777124178 0.00001
NM_001353214.3(DYM):c.93G>A (p.Pro31=) rs760868642 0.00001
NM_001353214.3(DYM):c.973C>T (p.Pro325Ser) rs776657632 0.00001
NM_001353214.3(DYM):c.975A>C (p.Pro325=) rs1343122293 0.00001
GRCh37/hg19 18q21.1(chr18:46583722-46803612)x1
GRCh37/hg19 18q21.1(chr18:46674881-46750191)x1
GRCh37/hg19 18q21.1(chr18:46952641-46980738)x3
NM_001353214.3(DYM):c.1035T>C (p.Ser345=)
NM_001353214.3(DYM):c.1061C>T (p.Thr354Ile)
NM_001353214.3(DYM):c.106C>G (p.Leu36Val)
NM_001353214.3(DYM):c.1085_1087del (p.Ile362del)
NM_001353214.3(DYM):c.1092A>T (p.Thr364=)
NM_001353214.3(DYM):c.1094_1097del (p.Tyr365fs) rs2145744381
NM_001353214.3(DYM):c.1106G>A (p.Arg369His)
NM_001353214.3(DYM):c.1125+8T>C
NM_001353214.3(DYM):c.1126-15A>G
NM_001353214.3(DYM):c.1126-2A>G rs2094725764
NM_001353214.3(DYM):c.1146T>A (p.Ile382=)
NM_001353214.3(DYM):c.1148T>G (p.Leu383Arg)
NM_001353214.3(DYM):c.1149G>A (p.Leu383=)
NM_001353214.3(DYM):c.1182G>C (p.Val394=)
NM_001353214.3(DYM):c.1205T>A (p.Leu402Ter)
NM_001353214.3(DYM):c.1215G>A (p.Thr405=)
NM_001353214.3(DYM):c.122del (p.Phe41fs) rs794727290
NM_001353214.3(DYM):c.123C>T (p.Phe41=) rs1600192255
NM_001353214.3(DYM):c.1244A>T (p.His415Leu) rs2041405992
NM_001353214.3(DYM):c.1251+155dup rs33965129
NM_001353214.3(DYM):c.1251+172dup rs1555671144
NM_001353214.3(DYM):c.1252-1G>A rs1568119124
NM_001353214.3(DYM):c.1252-328GT[17] rs61429427
NM_001353214.3(DYM):c.1252-449_1252-6del rs2145171425
NM_001353214.3(DYM):c.1296A>G (p.Glu432=)
NM_001353214.3(DYM):c.1300T>C (p.Ser434Pro)
NM_001353214.3(DYM):c.1301C>T (p.Ser434Phe) rs2145170036
NM_001353214.3(DYM):c.1323G>A (p.Leu441=)
NM_001353214.3(DYM):c.1365+18T>C
NM_001353214.3(DYM):c.1366-16C>T
NM_001353214.3(DYM):c.1371G>A (p.Lys457=)
NM_001353214.3(DYM):c.1381A>G (p.Thr461Ala)
NM_001353214.3(DYM):c.140+10T>C
NM_001353214.3(DYM):c.1412C>T (p.Ser471Leu)
NM_001353214.3(DYM):c.1413G>A (p.Ser471=)
NM_001353214.3(DYM):c.1415C>T (p.Ala472Val)
NM_001353214.3(DYM):c.144T>C (p.Ser48=) rs886042133
NM_001353214.3(DYM):c.1460+8T>C
NM_001353214.3(DYM):c.1460G>A (p.Ser487Asn) rs2094404408
NM_001353214.3(DYM):c.1517C>T (p.Pro506Leu)
NM_001353214.3(DYM):c.157T>C (p.Leu53=)
NM_001353214.3(DYM):c.1626-1G>T
NM_001353214.3(DYM):c.1626-304T>G rs12232591
NM_001353214.3(DYM):c.1626-4C>G
NM_001353214.3(DYM):c.163G>A (p.Glu55Lys) rs1455969623
NM_001353214.3(DYM):c.1669C>T (p.Gln557Ter) rs763380940
NM_001353214.3(DYM):c.1678C>T (p.Gln560Ter)
NM_001353214.3(DYM):c.1692T>G (p.Gly564=)
NM_001353214.3(DYM):c.1694C>T (p.Ser565Leu)
NM_001353214.3(DYM):c.1727A>T (p.Tyr576Phe)
NM_001353214.3(DYM):c.1729-1G>A rs2145988239
NM_001353214.3(DYM):c.1729G>T (p.Ala577Ser)
NM_001353214.3(DYM):c.1740A>G (p.Leu580=) rs549366750
NM_001353214.3(DYM):c.1776G>A (p.Glu592=)
NM_001353214.3(DYM):c.1809C>T (p.His603=) rs759926355
NM_001353214.3(DYM):c.1830C>T (p.Tyr610=)
NM_001353214.3(DYM):c.1831G>A (p.Ala611Thr)
NM_001353214.3(DYM):c.1839T>G (p.Leu613=)
NM_001353214.3(DYM):c.1877C>G (p.Pro626Arg)
NM_001353214.3(DYM):c.18C>T (p.Ser6=)
NM_001353214.3(DYM):c.1910T>G (p.Leu637Arg)
NM_001353214.3(DYM):c.1911+2T>C
NM_001353214.3(DYM):c.1912-10T>C
NM_001353214.3(DYM):c.1912-17A>T
NM_001353214.3(DYM):c.1922T>C (p.Phe641Ser)
NM_001353214.3(DYM):c.193+19T>A
NM_001353214.3(DYM):c.1969C>T (p.Arg657Trp)
NM_001353214.3(DYM):c.196G>A (p.Glu66Lys)
NM_001353214.3(DYM):c.1970G>A (p.Arg657Gln) rs1432375693
NM_001353214.3(DYM):c.1986T>C (p.Ile662=)
NM_001353214.3(DYM):c.1998C>T (p.Val666=)
NM_001353214.3(DYM):c.2017A>G (p.Arg673Gly)
NM_001353214.3(DYM):c.2025+1G>A rs786205511
NM_001353214.3(DYM):c.2026-5T>C
NM_001353214.3(DYM):c.2043del (p.Lys681fs) rs1471488189
NM_001353214.3(DYM):c.2088C>A (p.Pro696=)
NM_001353214.3(DYM):c.2091T>C (p.Tyr697=)
NM_001353214.3(DYM):c.209G>A (p.Arg70Gln)
NM_001353214.3(DYM):c.2103_2107del (p.Val702fs) rs2071152135
NM_001353214.3(DYM):c.2108A>G (p.Tyr703Cys)
NM_001353214.3(DYM):c.2111A>G (p.Asn704Ser)
NM_001353214.3(DYM):c.2115A>G (p.Ser705=)
NM_001353214.3(DYM):c.213A>G (p.Thr71=) rs892538062
NM_001353214.3(DYM):c.2164G>T (p.Asp722Tyr) rs528865224
NM_001353214.3(DYM):c.2169C>T (p.Ser723=)
NM_001353214.3(DYM):c.229C>G (p.Leu77Val) rs780426777
NM_001353214.3(DYM):c.24C>T (p.Ile8=)
NM_001353214.3(DYM):c.252A>G (p.Arg84=)
NM_001353214.3(DYM):c.259G>A (p.Glu87Lys) rs120074164
NM_001353214.3(DYM):c.272C>G (p.Ser91Ter) rs786205513
NM_001353214.3(DYM):c.27C>T (p.Gly9=)
NM_001353214.3(DYM):c.288-17G>A
NM_001353214.3(DYM):c.368del (p.Glu123fs) rs2147678318
NM_001353214.3(DYM):c.374A>G (p.Glu125Gly)
NM_001353214.3(DYM):c.379C>A (p.Gln127Lys)
NM_001353214.3(DYM):c.396T>A (p.Tyr132Ter) rs120074162
NM_001353214.3(DYM):c.413G>T (p.Gly138Val)
NM_001353214.3(DYM):c.416A>G (p.Asn139Ser) rs747398994
NM_001353214.3(DYM):c.421+16A>C
NM_001353214.3(DYM):c.421+20A>G
NM_001353214.3(DYM):c.421+9T>G
NM_001353214.3(DYM):c.422-18T>C
NM_001353214.3(DYM):c.422-20C>A
NM_001353214.3(DYM):c.422-30dup rs3840892
NM_001353214.3(DYM):c.442T>C (p.Leu148=)
NM_001353214.3(DYM):c.469C>G (p.Gln157Glu)
NM_001353214.3(DYM):c.48C>G (p.Tyr16Ter) rs120074161
NM_001353214.3(DYM):c.494+7T>C
NM_001353214.3(DYM):c.495-18G>A
NM_001353214.3(DYM):c.495-20_495-19del
NM_001353214.3(DYM):c.495-6T>C
NM_001353214.3(DYM):c.500T>C (p.Ile167Thr) rs75854087
NM_001353214.3(DYM):c.504A>C (p.Thr168=) rs368567108
NM_001353214.3(DYM):c.526A>G (p.Ile176Val)
NM_001353214.3(DYM):c.535A>G (p.Met179Val) rs867458779
NM_001353214.3(DYM):c.539T>G (p.Val180Gly) rs2146865937
NM_001353214.3(DYM):c.551C>T (p.Ser184Phe) rs772014312
NM_001353214.3(DYM):c.570A>G (p.Lys190=)
NM_001353214.3(DYM):c.59T>A (p.Leu20Ter) rs2074694091
NM_001353214.3(DYM):c.600G>A (p.Lys200=)
NM_001353214.3(DYM):c.603T>C (p.Tyr201=)
NM_001353214.3(DYM):c.60A>C (p.Leu20Phe)
NM_001353214.3(DYM):c.610C>T (p.Arg204Ter)
NM_001353214.3(DYM):c.613G>A (p.Gly205Ser)
NM_001353214.3(DYM):c.617C>T (p.Pro206Leu)
NM_001353214.3(DYM):c.621-14dup rs148345006
NM_001353214.3(DYM):c.645G>A (p.Val215=) rs2146827871
NM_001353214.3(DYM):c.654A>G (p.Leu218=) rs752441707
NM_001353214.3(DYM):c.657A>G (p.Leu219=)
NM_001353214.3(DYM):c.673C>T (p.Gln225Ter) rs1440421643
NM_001353214.3(DYM):c.693A>C (p.Pro231=)
NM_001353214.3(DYM):c.699C>T (p.Ala233=)
NM_001353214.3(DYM):c.702T>C (p.His234=)
NM_001353214.3(DYM):c.750A>C (p.Ala250=)
NM_001353214.3(DYM):c.760G>T (p.Ala254Ser)
NM_001353214.3(DYM):c.763+144_763+148del rs150221217
NM_001353214.3(DYM):c.764C>T (p.Thr255Ile)
NM_001353214.3(DYM):c.780C>G (p.Val260=)
NM_001353214.3(DYM):c.780C>T (p.Val260=) rs765774483
NM_001353214.3(DYM):c.799G>T (p.Gly267Cys) rs777977076
NM_001353214.3(DYM):c.813T>C (p.Ala271=)
NM_001353214.3(DYM):c.847C>A (p.Gln283Lys)
NM_001353214.3(DYM):c.84G>A (p.Glu28=)
NM_001353214.3(DYM):c.855C>T (p.Leu285=)
NM_001353214.3(DYM):c.858G>C (p.Leu286=)
NM_001353214.3(DYM):c.870G>T (p.Val290=)
NM_001353214.3(DYM):c.871T>C (p.Leu291=)
NM_001353214.3(DYM):c.880C>T (p.Leu294=)
NM_001353214.3(DYM):c.900G>A (p.Ala300=)
NM_001353214.3(DYM):c.907C>T (p.Pro303Ser)
NM_001353214.3(DYM):c.934A>G (p.Lys312Glu) rs2145831177
NM_001353214.3(DYM):c.946+1G>A rs786205512
NM_001353214.3(DYM):c.946+8G>T
NM_001353214.3(DYM):c.947-16G>A

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