ClinVar Miner

List of variants in gene MME reported by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 539
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HGVS dbSNP gnomAD frequency
NM_007289.4(MME):c.1601+11T>C rs1436633 0.36048
NM_007289.4(MME):c.1602-20del rs35450782 0.26225
NM_007289.4(MME):c.1781-3T>C rs3736187 0.11733
NM_007289.4(MME):c.197-15T>G rs79413638 0.01943
NM_007289.4(MME):c.22A>G (p.Met8Val) rs61762319 0.01673
NM_007289.4(MME):c.2133G>A (p.Val711=) rs61760409 0.00518
NM_007289.4(MME):c.160+15C>T rs56040366 0.00503
NM_007289.4(MME):c.160+13C>T rs151294289 0.00471
NM_007289.4(MME):c.1255A>C (p.Met419Leu) rs34931605 0.00459
NM_007289.4(MME):c.1915-12C>G rs141681458 0.00424
NM_007289.4(MME):c.1191C>T (p.Ala397=) rs35227300 0.00330
NM_007289.4(MME):c.855+6A>T rs41267907 0.00217
NM_007289.4(MME):c.1047A>G (p.Pro349=) rs35152996 0.00210
NM_007289.4(MME):c.786G>A (p.Leu262=) rs34147103 0.00208
NM_007289.4(MME):c.1033G>A (p.Val345Ile) rs61758194 0.00198
NM_007289.4(MME):c.674G>C (p.Gly225Ala) rs147564881 0.00163
NM_007289.4(MME):c.1040A>G (p.Tyr347Cys) rs138218277 0.00064
NM_007289.4(MME):c.1095-4A>G rs146419212 0.00062
NM_007289.4(MME):c.1032G>T (p.Val344=) rs138800488 0.00041
NM_007289.4(MME):c.1251G>A (p.Gly417=) rs138776903 0.00041
NM_007289.4(MME):c.197-4G>C rs201829141 0.00034
NM_007289.4(MME):c.1661-17A>G rs191289268 0.00024
NM_007289.4(MME):c.161-11C>T rs201622614 0.00021
NM_007289.4(MME):c.2196C>T (p.Ala732=) rs143526229 0.00021
NM_007289.4(MME):c.2053C>T (p.Leu685=) rs145715236 0.00019
NM_007289.4(MME):c.2154-13G>A rs199816998 0.00018
NM_007289.4(MME):c.96G>A (p.Ser32=) rs61762320 0.00018
NM_007289.4(MME):c.1161C>T (p.Tyr387=) rs200306703 0.00016
NM_007289.4(MME):c.1626C>G (p.Val542=) rs200455903 0.00016
NM_007289.4(MME):c.445A>G (p.Ile149Val) rs200157166 0.00016
NM_007289.4(MME):c.1778A>G (p.Asn593Ser) rs200657784 0.00014
NM_007289.4(MME):c.1810G>A (p.Val604Ile) rs200308077 0.00014
NM_007289.4(MME):c.2052A>G (p.Gln684=) rs191264116 0.00014
NM_007289.4(MME):c.954G>A (p.Gly318=) rs200278913 0.00014
NM_007289.4(MME):c.47C>A (p.Pro16Gln) rs199935778 0.00013
NM_007289.4(MME):c.411A>G (p.Lys137=) rs199805977 0.00012
NM_007289.4(MME):c.56A>G (p.Lys19Arg) rs148334392 0.00011
NM_007289.4(MME):c.1332T>C (p.Ile444=) rs139071507 0.00010
NM_007289.4(MME):c.139G>A (p.Ala47Thr) rs139929993 0.00009
NM_007289.4(MME):c.157G>A (p.Asp53Asn) rs200215811 0.00009
NM_007289.4(MME):c.1883A>G (p.Asn628Ser) rs181745819 0.00009
NM_007289.4(MME):c.2067C>A (p.Asn689Lys) rs146536523 0.00009
NM_007289.4(MME):c.2153+11A>G rs760620977 0.00009
NM_007289.4(MME):c.924C>A (p.Ile308=) rs150252105 0.00009
NM_007289.4(MME):c.97G>A (p.Val33Ile) rs201171168 0.00009
NM_007289.4(MME):c.1095-20C>T rs201833300 0.00008
NM_007289.4(MME):c.1342C>T (p.Arg448Ter) rs149905705 0.00008
NM_007289.4(MME):c.1497+20A>G rs202154297 0.00008
NM_007289.4(MME):c.655-12T>C rs201216744 0.00008
NM_007289.4(MME):c.1389C>T (p.Ala463=) rs140315924 0.00007
NM_007289.4(MME):c.770G>A (p.Arg257His) rs199818584 0.00007
NM_007289.4(MME):c.855+19T>C rs201045219 0.00007
NM_007289.4(MME):c.476A>G (p.Lys159Arg) rs144486590 0.00006
NM_007289.4(MME):c.793G>A (p.Asp265Asn) rs767535205 0.00006
NM_007289.4(MME):c.2010C>T (p.Gly670=) rs201494121 0.00005
NM_007289.4(MME):c.1184G>A (p.Arg395His) rs199804325 0.00004
NM_007289.4(MME):c.1441G>A (p.Gly481Ser) rs201180963 0.00004
NM_007289.4(MME):c.1700C>A (p.Ala567Asp) rs202024179 0.00004
NM_007289.4(MME):c.1869G>C (p.Val623=) rs189182286 0.00004
NM_007289.4(MME):c.1950T>A (p.Ala650=) rs140472450 0.00004
NM_007289.4(MME):c.2233A>G (p.Lys745Glu) rs148040689 0.00004
NM_007289.4(MME):c.264C>T (p.Cys88=) rs200698972 0.00004
NM_007289.4(MME):c.495T>C (p.Tyr165=) rs187940825 0.00004
NM_007289.4(MME):c.854A>G (p.Asn285Ser) rs200961860 0.00004
NM_007289.4(MME):c.860C>T (p.Thr287Met) rs202094946 0.00004
NM_007289.4(MME):c.1153C>T (p.Arg385Ter) rs772217958 0.00003
NM_007289.4(MME):c.1154G>A (p.Arg385Gln) rs200791566 0.00003
NM_007289.4(MME):c.1495G>A (p.Glu499Lys) rs201292663 0.00003
NM_007289.4(MME):c.1580G>A (p.Arg527Gln) rs202008298 0.00003
NM_007289.4(MME):c.1601+5G>A rs201612792 0.00003
NM_007289.4(MME):c.1914C>T (p.His638=) rs199578318 0.00003
NM_007289.4(MME):c.1981-10A>C rs188419869 0.00003
NM_007289.4(MME):c.294C>T (p.Pro98=) rs200713056 0.00003
NM_007289.4(MME):c.602T>C (p.Ile201Thr) rs374541166 0.00003
NM_007289.4(MME):c.655-16T>C rs754197938 0.00003
NM_007289.4(MME):c.957+12G>T rs377681759 0.00003
NM_007289.4(MME):c.112C>G (p.Leu38Val) rs142671126 0.00002
NM_007289.4(MME):c.1189-3T>A rs1057470052 0.00002
NM_007289.4(MME):c.1189-5C>T rs2304504 0.00002
NM_007289.4(MME):c.1317+8T>G rs373846975 0.00002
NM_007289.4(MME):c.1318-3G>A rs199864947 0.00002
NM_007289.4(MME):c.1497+1G>C rs1395068713 0.00002
NM_007289.4(MME):c.155A>G (p.Tyr52Cys) rs201694291 0.00002
NM_007289.4(MME):c.1672G>A (p.Gly558Ser) rs200645368 0.00002
NM_007289.4(MME):c.1914+1G>A rs1003705057 0.00002
NM_007289.4(MME):c.196+19G>A rs73875803 0.00002
NM_007289.4(MME):c.2075A>G (p.Gln692Arg) rs758858771 0.00002
NM_007289.4(MME):c.2108C>T (p.Ala703Val) rs200313650 0.00002
NM_007289.4(MME):c.281G>A (p.Arg94His) rs201870091 0.00002
NM_007289.4(MME):c.307C>T (p.Arg103Cys) rs765422392 0.00002
NM_007289.4(MME):c.346G>A (p.Val116Ile) rs745499234 0.00002
NM_007289.4(MME):c.450T>G (p.Asp150Glu) rs201578556 0.00002
NM_007289.4(MME):c.514G>C (p.Glu172Gln) rs200164975 0.00002
NM_007289.4(MME):c.601A>T (p.Ile201Phe) rs760907721 0.00002
NM_007289.4(MME):c.769C>A (p.Arg257Ser) rs145687755 0.00002
NM_007289.4(MME):c.857C>T (p.Ala286Val) rs1208709767 0.00002
NM_007289.4(MME):c.887C>A (p.Pro296Gln) rs761905435 0.00002
NM_007289.4(MME):c.1094+4G>A rs755335510 0.00001
NM_007289.4(MME):c.1095-17T>C rs1350181870 0.00001
NM_007289.4(MME):c.1095-19G>A rs768477084 0.00001
NM_007289.4(MME):c.1123T>C (p.Phe375Leu) rs201199411 0.00001
NM_007289.4(MME):c.1137T>G (p.Leu379=) rs778411008 0.00001
NM_007289.4(MME):c.1228C>T (p.Arg410Cys) rs369531733 0.00001
NM_007289.4(MME):c.1241A>G (p.Tyr414Cys) rs202095767 0.00001
NM_007289.4(MME):c.1265C>A (p.Ala422Asp) rs777476150 0.00001
NM_007289.4(MME):c.1313_1314del (p.His438fs) rs765778616 0.00001
NM_007289.4(MME):c.131C>A (p.Thr44Lys) rs1062488 0.00001
NM_007289.4(MME):c.1320C>T (p.Val440=) rs770000057 0.00001
NM_007289.4(MME):c.1343G>A (p.Arg448Gln) rs752849341 0.00001
NM_007289.4(MME):c.1348G>T (p.Val450Phe) rs147133542 0.00001
NM_007289.4(MME):c.134T>C (p.Met45Thr) rs757010716 0.00001
NM_007289.4(MME):c.1390G>A (p.Glu464Lys) rs200864897 0.00001
NM_007289.4(MME):c.1417-18A>G rs1219891459 0.00001
NM_007289.4(MME):c.1445A>C (p.Tyr482Ser) rs201936237 0.00001
NM_007289.4(MME):c.1479G>T (p.Leu493=) rs1203635074 0.00001
NM_007289.4(MME):c.1497+4A>G rs1162189434 0.00001
NM_007289.4(MME):c.1498-3C>G rs1417837337 0.00001
NM_007289.4(MME):c.1499T>C (p.Leu500Ser) rs200284858 0.00001
NM_007289.4(MME):c.1511A>T (p.Glu504Val) rs201239248 0.00001
NM_007289.4(MME):c.1520A>G (p.Tyr507Cys) rs367899772 0.00001
NM_007289.4(MME):c.1590G>A (p.Val530=) rs1209332250 0.00001
NM_007289.4(MME):c.1598A>G (p.Asp533Gly) rs771842754 0.00001
NM_007289.4(MME):c.161-20A>G rs780349049 0.00001
NM_007289.4(MME):c.162T>C (p.Asp54=) rs35926730 0.00001
NM_007289.4(MME):c.1661-16T>C rs61760394 0.00001
NM_007289.4(MME):c.1687C>G (p.Pro563Ala) rs1218393299 0.00001
NM_007289.4(MME):c.1706A>C (p.Gln569Pro) rs1326179984 0.00001
NM_007289.4(MME):c.1728G>A (p.Gly576=) rs1484172889 0.00001
NM_007289.4(MME):c.1735G>A (p.Gly579Ser) rs767928746 0.00001
NM_007289.4(MME):c.1742T>A (p.Val581Asp) rs1173566915 0.00001
NM_007289.4(MME):c.1753G>A (p.Glu585Lys) rs757277227 0.00001
NM_007289.4(MME):c.1771G>A (p.Asp591Asn) rs1028833096 0.00001
NM_007289.4(MME):c.1781-2A>G rs765231758 0.00001
NM_007289.4(MME):c.1809C>T (p.Leu603=) rs148809350 0.00001
NM_007289.4(MME):c.1834G>A (p.Ala612Thr) rs373479159 0.00001
NM_007289.4(MME):c.1864A>G (p.Met622Val) rs201459318 0.00001
NM_007289.4(MME):c.1867G>A (p.Val623Met) rs762183866 0.00001
NM_007289.4(MME):c.1914+6T>A rs763757710 0.00001
NM_007289.4(MME):c.1930A>G (p.Thr644Ala) rs201171603 0.00001
NM_007289.4(MME):c.1933C>A (p.Leu645Met) rs202245924 0.00001
NM_007289.4(MME):c.1944C>T (p.Asn648=) rs200189698 0.00001
NM_007289.4(MME):c.1948G>A (p.Ala650Thr) rs778011002 0.00001
NM_007289.4(MME):c.1953T>C (p.Asp651=) rs1711592146 0.00001
NM_007289.4(MME):c.196+10G>T rs771899867 0.00001
NM_007289.4(MME):c.197-20T>C rs762617814 0.00001
NM_007289.4(MME):c.202C>T (p.Arg68Ter) rs201692212 0.00001
NM_007289.4(MME):c.2084G>A (p.Cys695Tyr) rs1222292556 0.00001
NM_007289.4(MME):c.2141C>T (p.Pro714Leu) rs201412057 0.00001
NM_007289.4(MME):c.2153+10T>C rs775395906 0.00001
NM_007289.4(MME):c.2153+4C>T rs745620432 0.00001
NM_007289.4(MME):c.2161G>A (p.Gly721Arg) rs149326800 0.00001
NM_007289.4(MME):c.2195C>G (p.Ala732Gly) rs769409181 0.00001
NM_007289.4(MME):c.2207G>T (p.Arg736Leu) rs201935217 0.00001
NM_007289.4(MME):c.226A>G (p.Thr76Ala) rs1044344992 0.00001
NM_007289.4(MME):c.25G>C (p.Asp9His) rs370911005 0.00001
NM_007289.4(MME):c.280C>T (p.Arg94Cys) rs184108383 0.00001
NM_007289.4(MME):c.298del (p.Thr100fs) rs753679568 0.00001
NM_007289.4(MME):c.358G>A (p.Asp120Asn) rs1440811096 0.00001
NM_007289.4(MME):c.389T>C (p.Ile130Thr) rs200313798 0.00001
NM_007289.4(MME):c.38T>C (p.Ile13Thr) rs751490017 0.00001
NM_007289.4(MME):c.42C>T (p.Asn14=) rs142421146 0.00001
NM_007289.4(MME):c.440-2A>C rs200435950 0.00001
NM_007289.4(MME):c.516A>T (p.Glu172Asp) rs201333758 0.00001
NM_007289.4(MME):c.536-18T>C rs201176719 0.00001
NM_007289.4(MME):c.655-11A>G rs199843704 0.00001
NM_007289.4(MME):c.655-2A>G rs765591205 0.00001
NM_007289.4(MME):c.66G>C (p.Gln22His) rs141402067 0.00001
NM_007289.4(MME):c.67C>T (p.Arg23Ter) rs150836510 0.00001
NM_007289.4(MME):c.711C>G (p.Ile237Met) rs745768263 0.00001
NM_007289.4(MME):c.720+19A>G rs200377469 0.00001
NM_007289.4(MME):c.72G>T (p.Trp24Cys) rs199920139 0.00001
NM_007289.4(MME):c.753T>C (p.Ser251=) rs200845545 0.00001
NM_007289.4(MME):c.779A>C (p.Glu260Ala) rs200279069 0.00001
NM_007289.4(MME):c.779A>G (p.Glu260Gly) rs200279069 0.00001
NM_007289.4(MME):c.856-4A>G rs748841411 0.00001
NM_007289.4(MME):c.861G>A (p.Thr287=) rs3213879 0.00001
NM_007289.4(MME):c.877C>T (p.Arg293Ter) rs764060752 0.00001
NM_007289.4(MME):c.881A>G (p.Asn294Ser) rs201002280 0.00001
NM_007289.4(MME):c.911C>T (p.Thr304Ile) rs1042290 0.00001
NM_007289.4(MME):c.957+3A>G rs201526630 0.00001
NC_000003.11:g.(?_154801957)_(154802903_?)del
NC_000003.11:g.(?_154801957)_(154898248_?)del
NC_000003.11:g.(?_154801957)_(154898248_?)dup
NC_000003.11:g.(?_154832763)_(154832964_?)del
NC_000003.11:g.(?_154832763)_(154836620_?)del
NC_000003.11:g.(?_154858078)_(155056072_?)del
NC_000003.11:g.(?_154864930)_(154876652_?)del
NC_000003.11:g.(?_154886501)_(154886606_?)dup
NC_000003.12:g.155142236GA[1]
NM_007289.4(MME):c.1010G>A (p.Ser337Asn) rs2108312023
NM_007289.4(MME):c.1015A>G (p.Thr339Ala)
NM_007289.4(MME):c.1016C>T (p.Thr339Ile) rs769969573
NM_007289.4(MME):c.1030G>A (p.Val344Met)
NM_007289.4(MME):c.1030_1039dup (p.Tyr347fs)
NM_007289.4(MME):c.1035T>A (p.Val345=)
NM_007289.4(MME):c.1039_1042dup (p.Ala348fs)
NM_007289.4(MME):c.103G>A (p.Val35Ile)
NM_007289.4(MME):c.1042G>C (p.Ala348Pro)
NM_007289.4(MME):c.1048_1049del (p.Glu350fs) rs767841325
NM_007289.4(MME):c.1066A>T (p.Lys356Ter)
NM_007289.4(MME):c.1080C>T (p.Thr360=) rs2108312301
NM_007289.4(MME):c.1094+18C>A
NM_007289.4(MME):c.1094+1G>A
NM_007289.4(MME):c.1094+1G>T
NM_007289.4(MME):c.1095-6dup
NM_007289.4(MME):c.1095-7T>C
NM_007289.4(MME):c.1095-7dup
NM_007289.4(MME):c.1108T>C (p.Leu370=)
NM_007289.4(MME):c.1121G>A (p.Arg374Lys) rs753114582
NM_007289.4(MME):c.1133A>T (p.Asp378Val)
NM_007289.4(MME):c.1140A>G (p.Val380=)
NM_007289.4(MME):c.1149C>G (p.Leu383=)
NM_007289.4(MME):c.1152C>T (p.Ser384=) rs201534959
NM_007289.4(MME):c.1158C>G (p.Thr386=)
NM_007289.4(MME):c.1168T>A (p.Ser390Thr)
NM_007289.4(MME):c.1179T>C (p.Ala393=)
NM_007289.4(MME):c.117C>G (p.Thr39=)
NM_007289.4(MME):c.1183C>T (p.Arg395Cys) rs201459271
NM_007289.4(MME):c.1188+12A>T
NM_007289.4(MME):c.1188+12dup rs536950859
NM_007289.4(MME):c.1188+13T>A
NM_007289.4(MME):c.1188+16C>G
NM_007289.4(MME):c.1188+1G>A
NM_007289.4(MME):c.1188G>A (p.Lys396=) rs1721174222
NM_007289.4(MME):c.1189-14_1189-7dup rs771663616
NM_007289.4(MME):c.1189-15T>G
NM_007289.4(MME):c.1189-4G>A rs182602615
NM_007289.4(MME):c.1199G>C (p.Gly400Ala) rs2108315212
NM_007289.4(MME):c.11C>G (p.Ser4Ter)
NM_007289.4(MME):c.121_125delinsCTATGA (p.Ile41_Ala42delinsLeuTer)
NM_007289.4(MME):c.1221T>G (p.Thr407=)
NM_007289.4(MME):c.1229G>A (p.Arg410His)
NM_007289.4(MME):c.1231_1233del (p.Cys411del)
NM_007289.4(MME):c.1238del (p.Asn413fs) rs2108315303
NM_007289.4(MME):c.1248T>C (p.Asn416=)
NM_007289.4(MME):c.124G>A (p.Ala42Thr) rs201190279
NM_007289.4(MME):c.1255A>G (p.Met419Val)
NM_007289.4(MME):c.1256T>C (p.Met419Thr)
NM_007289.4(MME):c.1266T>C (p.Ala422=)
NM_007289.4(MME):c.1267G>C (p.Val423Leu)
NM_007289.4(MME):c.1281T>C (p.Tyr427=) rs2108315425
NM_007289.4(MME):c.1282G>A (p.Val428Met) rs201362716
NM_007289.4(MME):c.1282G>T (p.Val428Leu) rs201362716
NM_007289.4(MME):c.1300G>A (p.Gly434Arg) rs866204088
NM_007289.4(MME):c.1305G>C (p.Glu435Asp) rs1721282580
NM_007289.4(MME):c.1314T>C (p.His438=) rs1201960953
NM_007289.4(MME):c.1318-1G>C
NM_007289.4(MME):c.1337A>G (p.Gln446Arg)
NM_007289.4(MME):c.1339A>G (p.Ile447Val)
NM_007289.4(MME):c.1358A>T (p.Gln453Leu)
NM_007289.4(MME):c.1385A>C (p.Asp462Ala) rs2108317081
NM_007289.4(MME):c.1389C>A (p.Ala463=)
NM_007289.4(MME):c.138C>T (p.Ile46=)
NM_007289.4(MME):c.1395A>C (p.Thr465=)
NM_007289.4(MME):c.1400del (p.Lys467fs)
NM_007289.4(MME):c.1400dup (p.Arg468fs) rs751149568
NM_007289.4(MME):c.1416+13C>G
NM_007289.4(MME):c.1416+15G>A
NM_007289.4(MME):c.1416+16C>T
NM_007289.4(MME):c.1417-10A>C
NM_007289.4(MME):c.1417-13A>G
NM_007289.4(MME):c.1440C>T (p.Ile480=)
NM_007289.4(MME):c.1443C>A (p.Gly481=) rs1721578873
NM_007289.4(MME):c.1449T>C (p.Pro483=)
NM_007289.4(MME):c.1450G>C (p.Asp484His)
NM_007289.4(MME):c.1452T>C (p.Asp484=)
NM_007289.4(MME):c.1457T>C (p.Ile486Thr)
NM_007289.4(MME):c.146A>G (p.Tyr49Cys) rs946908279
NM_007289.4(MME):c.1473C>T (p.Asn491=)
NM_007289.4(MME):c.1489T>C (p.Tyr497His)
NM_007289.4(MME):c.1497+1G>A
NM_007289.4(MME):c.1497+5G>A rs1721587504
NM_007289.4(MME):c.1500G>A (p.Leu500=)
NM_007289.4(MME):c.1502_1503insTG (p.Tyr502fs) rs2108325656
NM_007289.4(MME):c.1506C>T (p.Tyr502=)
NM_007289.4(MME):c.1519T>A (p.Tyr507Asn)
NM_007289.4(MME):c.1524C>T (p.Phe508=)
NM_007289.4(MME):c.1525G>A (p.Glu509Lys)
NM_007289.4(MME):c.154T>G (p.Tyr52Asp)
NM_007289.4(MME):c.156C>T (p.Tyr52=)
NM_007289.4(MME):c.1575G>A (p.Lys525=)
NM_007289.4(MME):c.1589T>G (p.Val530Gly) rs144240445
NM_007289.4(MME):c.1599T>C (p.Asp533=)
NM_007289.4(MME):c.160+14A>T
NM_007289.4(MME):c.160+2T>C rs1446583831
NM_007289.4(MME):c.1601+2T>C
NM_007289.4(MME):c.1602-11G>C
NM_007289.4(MME):c.1602-12T>C
NM_007289.4(MME):c.1602-13A>T
NM_007289.4(MME):c.1602-4A>G
NM_007289.4(MME):c.1604G>A (p.Trp535Ter)
NM_007289.4(MME):c.1609A>C (p.Ser537Arg) rs2108350900
NM_007289.4(MME):c.161-11C>A rs201622614
NM_007289.4(MME):c.161-13C>T rs1388013925
NM_007289.4(MME):c.161-15C>A
NM_007289.4(MME):c.161-17T>G
NM_007289.4(MME):c.161-9T>C rs199926724
NM_007289.4(MME):c.1635T>A (p.Phe545Leu)
NM_007289.4(MME):c.1645G>T (p.Gly549Ter)
NM_007289.4(MME):c.1647A>G (p.Gly549=) rs1268314328
NM_007289.4(MME):c.1660+12T>C
NM_007289.4(MME):c.1660+9T>C
NM_007289.4(MME):c.1661-18T>C
NM_007289.4(MME):c.1671C>T (p.Ala557=)
NM_007289.4(MME):c.1681C>T (p.Gln561Ter)
NM_007289.4(MME):c.1686C>G (p.Pro562=)
NM_007289.4(MME):c.1689del (p.Phe564fs)
NM_007289.4(MME):c.1689dup (p.Phe564fs) rs749150627
NM_007289.4(MME):c.1702C>A (p.Gln568Lys)
NM_007289.4(MME):c.1718T>A (p.Leu573Ter)
NM_007289.4(MME):c.1730G>A (p.Gly577Asp)
NM_007289.4(MME):c.1730G>T (p.Gly577Val) rs371862411
NM_007289.4(MME):c.1734C>T (p.Ile578=)
NM_007289.4(MME):c.1745T>C (p.Ile582Thr) rs1723146996
NM_007289.4(MME):c.1752C>T (p.His584=) rs751802248
NM_007289.4(MME):c.1770C>T (p.Phe590=)
NM_007289.4(MME):c.1773T>A (p.Asp591Glu)
NM_007289.4(MME):c.1780+10A>G
NM_007289.4(MME):c.1780+3A>G rs1299522334
NM_007289.4(MME):c.1780+8G>T
NM_007289.4(MME):c.1781-10T>C
NM_007289.4(MME):c.1781-12_1781-9del
NM_007289.4(MME):c.1781-7A>C
NM_007289.4(MME):c.1781-7A>G
NM_007289.4(MME):c.1807C>A (p.Leu603Ile)
NM_007289.4(MME):c.1815del (p.Trp606fs) rs2108366317
NM_007289.4(MME):c.1818G>A (p.Trp606Ter)
NM_007289.4(MME):c.1819T>C (p.Trp607Arg) rs950637527
NM_007289.4(MME):c.1827_1829dup (p.Gln610dup) rs1711567872
NM_007289.4(MME):c.1833T>C (p.Ser611=)
NM_007289.4(MME):c.1849G>A (p.Glu617Lys)
NM_007289.4(MME):c.1862G>A (p.Cys621Tyr) rs1358720141
NM_007289.4(MME):c.1866G>A (p.Met622Ile) rs777055350
NM_007289.4(MME):c.1869G>A (p.Val623=)
NM_007289.4(MME):c.1887_1888del (p.Ser630fs)
NM_007289.4(MME):c.1889C>T (p.Ser630Phe)
NM_007289.4(MME):c.189A>C (p.Ile63=)
NM_007289.4(MME):c.1907G>A (p.Gly636Glu)
NM_007289.4(MME):c.1909C>T (p.Gln637Ter)
NM_007289.4(MME):c.1913A>G (p.His638Arg)
NM_007289.4(MME):c.1914+14A>G
NM_007289.4(MME):c.1914+18T>C rs2108366688
NM_007289.4(MME):c.1915-16G>T
NM_007289.4(MME):c.1915-19A>G
NM_007289.4(MME):c.1915C>T (p.Leu639Phe)
NM_007289.4(MME):c.193T>C (p.Ser65Pro) rs201910473
NM_007289.4(MME):c.1946T>C (p.Ile649Thr) rs184666602
NM_007289.4(MME):c.1946T>G (p.Ile649Ser) rs184666602
NM_007289.4(MME):c.1958G>A (p.Gly653Glu) rs201725139
NM_007289.4(MME):c.196+15T>C
NM_007289.4(MME):c.196+18C>A
NM_007289.4(MME):c.196+18C>T rs143147554
NM_007289.4(MME):c.1961G>C (p.Gly654Ala)
NM_007289.4(MME):c.1967G>A (p.Gly656Asp)
NM_007289.4(MME):c.1974A>G (p.Ala658=)
NM_007289.4(MME):c.1980+10A>C
NM_007289.4(MME):c.1980+12del rs761967686
NM_007289.4(MME):c.1980+22del
NM_007289.4(MME):c.1981-12T>C
NM_007289.4(MME):c.1981-13A>G
NM_007289.4(MME):c.1981-6G>A
NM_007289.4(MME):c.1997T>C (p.Ile666Thr) rs61760406
NM_007289.4(MME):c.1998T>C (p.Ile666=)
NM_007289.4(MME):c.19dup (p.Gln7fs)
NM_007289.4(MME):c.2009G>A (p.Gly670Asp)
NM_007289.4(MME):c.2011G>A (p.Glu671Lys)
NM_007289.4(MME):c.2050C>T (p.Gln684Ter) rs200678412
NM_007289.4(MME):c.2055A>G (p.Leu685=)
NM_007289.4(MME):c.2076+14C>G rs2108374601
NM_007289.4(MME):c.2076+15T>G
NM_007289.4(MME):c.2076+17G>A
NM_007289.4(MME):c.2076+19T>C
NM_007289.4(MME):c.2076+19T>G
NM_007289.4(MME):c.2076+1G>A
NM_007289.4(MME):c.2076+20T>A
NM_007289.4(MME):c.2076+3A>G rs1339057934
NM_007289.4(MME):c.2077-10C>A
NM_007289.4(MME):c.2077-6C>T
NM_007289.4(MME):c.2077-7T>G
NM_007289.4(MME):c.2091C>T (p.Thr697=)
NM_007289.4(MME):c.2109G>A (p.Ala703=)
NM_007289.4(MME):c.2109G>T (p.Ala703=) rs201186384
NM_007289.4(MME):c.2119A>G (p.Ile707Val)
NM_007289.4(MME):c.2140C>T (p.Pro714Ser) rs1712103823
NM_007289.4(MME):c.2143G>A (p.Gly715Ser) rs963818777
NM_007289.4(MME):c.2153+16C>G
NM_007289.4(MME):c.2153+16C>T
NM_007289.4(MME):c.2153+9A>C rs1299312039
NM_007289.4(MME):c.2153G>A (p.Arg718Lys)
NM_007289.4(MME):c.2154-10del
NM_007289.4(MME):c.2154-12T>G
NM_007289.4(MME):c.2154-17T>G
NM_007289.4(MME):c.2154-18T>C
NM_007289.4(MME):c.2154-5_2160del rs1712962174
NM_007289.4(MME):c.2154G>T (p.Arg718Ser) rs1284714866
NM_007289.4(MME):c.2155A>T (p.Ile719Phe) rs2108392397
NM_007289.4(MME):c.2175C>T (p.Asn725=)
NM_007289.4(MME):c.2178T>G (p.Ser726=)
NM_007289.4(MME):c.217A>G (p.Met73Val)
NM_007289.4(MME):c.2181A>G (p.Ala727=)
NM_007289.4(MME):c.2189C>G (p.Ser730Ter)
NM_007289.4(MME):c.2198T>C (p.Phe733Ser)
NM_007289.4(MME):c.2218T>C (p.Tyr740His)
NM_007289.4(MME):c.2237A>G (p.Lys746Arg) rs202010816
NM_007289.4(MME):c.2238del (p.Lys746fs) rs2108392781
NM_007289.4(MME):c.2243G>A (p.Arg748Gln)
NM_007289.4(MME):c.224C>G (p.Ala75Gly) rs996780520
NM_007289.4(MME):c.228del (p.Thr77fs)
NM_007289.4(MME):c.239G>A (p.Cys80Tyr) rs754813027
NM_007289.4(MME):c.239G>C (p.Cys80Ser)
NM_007289.4(MME):c.240T>C (p.Cys80=) rs2108251163
NM_007289.4(MME):c.245A>T (p.Asp82Val) rs2108251175
NM_007289.4(MME):c.258T>C (p.Tyr86=)
NM_007289.4(MME):c.25G>A (p.Asp9Asn) rs370911005
NM_007289.4(MME):c.264C>A (p.Cys88Ter) rs200698972
NM_007289.4(MME):c.269G>T (p.Gly90Val) rs375446154
NM_007289.4(MME):c.26A>G (p.Asp9Gly)
NM_007289.4(MME):c.274T>C (p.Leu92=)
NM_007289.4(MME):c.285T>C (p.Asn95=)
NM_007289.4(MME):c.287T>C (p.Val96Ala)
NM_007289.4(MME):c.312C>A (p.Tyr104Ter)
NM_007289.4(MME):c.312C>T (p.Tyr104=)
NM_007289.4(MME):c.318C>A (p.Asn106Lys) rs756048894
NM_007289.4(MME):c.336T>A (p.Asp112Glu) rs2108251535
NM_007289.4(MME):c.347T>G (p.Val116Gly) rs2108251574
NM_007289.4(MME):c.358+14G>A
NM_007289.4(MME):c.358+15T>C
NM_007289.4(MME):c.358+20G>C
NM_007289.4(MME):c.358+20G>T
NM_007289.4(MME):c.381T>A (p.Thr127=)
NM_007289.4(MME):c.382G>A (p.Glu128Lys)
NM_007289.4(MME):c.390A>G (p.Ile130Met) rs2108255442
NM_007289.4(MME):c.391G>A (p.Val131Ile)
NM_007289.4(MME):c.407C>A (p.Ala136Glu)
NM_007289.4(MME):c.411A>C (p.Lys137Asn)
NM_007289.4(MME):c.418T>G (p.Tyr140Asp)
NM_007289.4(MME):c.436_439+1delinsC rs1718622890
NM_007289.4(MME):c.439+12T>C
NM_007289.4(MME):c.439+14_439+22dup
NM_007289.4(MME):c.439+1G>A
NM_007289.4(MME):c.439+1del
NM_007289.4(MME):c.439+6T>G
NM_007289.4(MME):c.439+7G>A
NM_007289.4(MME):c.439+9T>C
NM_007289.4(MME):c.440-13T>C
NM_007289.4(MME):c.440-17T>C
NM_007289.4(MME):c.440-19T>C
NM_007289.4(MME):c.440-8T>A rs1269151122
NM_007289.4(MME):c.444T>C (p.Ala148=)
NM_007289.4(MME):c.446T>C (p.Ile149Thr) rs770141554
NM_007289.4(MME):c.456A>G (p.Arg152=)
NM_007289.4(MME):c.463G>A (p.Glu155Lys)
NM_007289.4(MME):c.467del (p.Pro156fs) rs749320057
NM_007289.4(MME):c.471A>C (p.Leu157=)
NM_007289.4(MME):c.480_481del (p.Leu161fs)
NM_007289.4(MME):c.498G>A (p.Gly166=)
NM_007289.4(MME):c.525G>A (p.Glu175=)
NM_007289.4(MME):c.531del (p.Lys177fs) rs1190163112
NM_007289.4(MME):c.535+18C>T
NM_007289.4(MME):c.535+19T>A
NM_007289.4(MME):c.535+19del
NM_007289.4(MME):c.535+1G>C
NM_007289.4(MME):c.536-1G>A
NM_007289.4(MME):c.538G>A (p.Ala180Thr)
NM_007289.4(MME):c.53C>T (p.Pro18Leu)
NM_007289.4(MME):c.544T>G (p.Trp182Gly)
NM_007289.4(MME):c.572T>G (p.Leu191Arg)
NM_007289.4(MME):c.572del (p.Leu191fs)
NM_007289.4(MME):c.576T>C (p.Asn192=) rs1256021451
NM_007289.4(MME):c.594dup (p.Val199fs) rs1254522989
NM_007289.4(MME):c.600T>C (p.Leu200=)
NM_007289.4(MME):c.604_607del (p.Asn202fs) rs1165784045
NM_007289.4(MME):c.612_615del (p.Phe204fs) rs764731848
NM_007289.4(MME):c.645T>C (p.His215=)
NM_007289.4(MME):c.654+17A>G
NM_007289.4(MME):c.655-11del
NM_007289.4(MME):c.655-18T>C
NM_007289.4(MME):c.655-20T>C
NM_007289.4(MME):c.655-4A>G
NM_007289.4(MME):c.655-5dup
NM_007289.4(MME):c.655-7T>A
NM_007289.4(MME):c.655-9T>G
NM_007289.4(MME):c.668G>T (p.Arg223Leu) rs41267905
NM_007289.4(MME):c.66G>A (p.Gln22=)
NM_007289.4(MME):c.678C>T (p.Leu226=)
NM_007289.4(MME):c.683C>G (p.Ser228Cys)
NM_007289.4(MME):c.68G>A (p.Arg23Gln) rs201850855
NM_007289.4(MME):c.697G>T (p.Glu233Ter)
NM_007289.4(MME):c.711C>A (p.Ile237=)
NM_007289.4(MME):c.713A>C (p.Tyr238Ser) rs202126163
NM_007289.4(MME):c.71G>A (p.Trp24Ter) rs886039755
NM_007289.4(MME):c.720+16del rs553956776
NM_007289.4(MME):c.720+16dup
NM_007289.4(MME):c.720+1G>A
NM_007289.4(MME):c.721-15A>G
NM_007289.4(MME):c.721-16T>C
NM_007289.4(MME):c.721-18G>A rs2108303300
NM_007289.4(MME):c.721-20G>A
NM_007289.4(MME):c.721-3C>T
NM_007289.4(MME):c.721-8del
NM_007289.4(MME):c.721-8dup
NM_007289.4(MME):c.757G>C (p.Ala253Pro)
NM_007289.4(MME):c.763T>C (p.Leu255=)
NM_007289.4(MME):c.769C>G (p.Arg257Gly)
NM_007289.4(MME):c.771T>C (p.Arg257=)
NM_007289.4(MME):c.78A>G (p.Pro26=)
NM_007289.4(MME):c.792C>T (p.Ile264=)
NM_007289.4(MME):c.792del (p.Ile264fs) rs2108303574
NM_007289.4(MME):c.799A>T (p.Asn267Tyr)
NM_007289.4(MME):c.801C>T (p.Asn267=)
NM_007289.4(MME):c.817A>G (p.Met273Val)
NM_007289.4(MME):c.818T>C (p.Met273Thr)
NM_007289.4(MME):c.834A>T (p.Glu278Asp) rs1720788222
NM_007289.4(MME):c.849T>G (p.Ile283Met) rs1345407842
NM_007289.4(MME):c.851C>T (p.Ala284Val)
NM_007289.4(MME):c.855+14T>G
NM_007289.4(MME):c.855+19del
NM_007289.4(MME):c.855+19dup
NM_007289.4(MME):c.855+9C>T
NM_007289.4(MME):c.856-10A>C
NM_007289.4(MME):c.856-12T>A
NM_007289.4(MME):c.864T>C (p.Ala288=)
NM_007289.4(MME):c.874G>A (p.Asp292Asn)
NM_007289.4(MME):c.882T>C (p.Asn294=)
NM_007289.4(MME):c.888A>G (p.Pro296=)
NM_007289.4(MME):c.900T>C (p.Tyr300=) rs1576634233
NM_007289.4(MME):c.900_901dup (p.Asn301fs) rs2108307852
NM_007289.4(MME):c.929del (p.Asn310fs) rs2108308008
NM_007289.4(MME):c.934T>A (p.Phe312Ile) rs748834417
NM_007289.4(MME):c.957+18del
NM_007289.4(MME):c.957+1G>A
NM_007289.4(MME):c.957+20T>A
NM_007289.4(MME):c.958-10T>C
NM_007289.4(MME):c.958-18A>G
NM_007289.4(MME):c.958-2A>G rs2108311839
NM_007289.4(MME):c.958-3C>G rs1468691508
NM_007289.4(MME):c.958-3del rs1172571307
NM_007289.4(MME):c.95C>T (p.Ser32Leu)
NM_007289.4(MME):c.969G>A (p.Trp323Ter)

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