ClinVar Miner

List of variants in gene MSX2 studied for central nervous system malformation

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_002449.5(MSX2):c.*1176G>C rs2890849 0.79238
NM_002449.5(MSX2):c.386T>C (p.Met129Thr) rs4242182 0.78320
NM_002449.5(MSX2):c.*1125A>G rs14459 0.76842
NM_002449.5(MSX2):c.*510A>G rs2381939 0.76399
NM_002449.5(MSX2):c.*1146T>C rs2890848 0.75720
NM_002449.5(MSX2):c.380-164G>A rs4867776 0.58905
NM_002449.5(MSX2):c.*658C>T rs10044147 0.03436
NM_002449.5(MSX2):c.-17C>G rs4647952 0.03140
NM_002449.5(MSX2):c.*416A>C rs10038500 0.02725
NM_002449.5(MSX2):c.*349T>C rs114567531 0.02667
NM_002449.5(MSX2):c.*466G>A rs148083483 0.00560
NM_002449.5(MSX2):c.*1007T>A rs74292295 0.00387
NM_002449.5(MSX2):c.*257T>C rs187794452 0.00385
NM_002449.5(MSX2):c.*723A>C rs115604243 0.00315
NM_002449.5(MSX2):c.*1249T>C rs139249455 0.00219
NM_002449.5(MSX2):c.*366T>G rs193163747 0.00146
NM_002449.5(MSX2):c.*1189G>A rs146501739 0.00137
NM_002449.5(MSX2):c.*1050T>C rs184931219 0.00133
NM_002449.5(MSX2):c.*635G>A rs192627117 0.00101
NM_002449.5(MSX2):c.117C>T (p.Arg39=) rs376630472 0.00097
NM_002449.5(MSX2):c.*363A>G rs376258231 0.00049
NM_002449.5(MSX2):c.*1064A>G rs189444818 0.00045
NM_002449.5(MSX2):c.*1096A>G rs530984915 0.00032
NM_002449.5(MSX2):c.*183G>T rs771167296 0.00030
NM_002449.5(MSX2):c.*601C>T rs886060430 0.00026
NM_002449.5(MSX2):c.*1178C>T rs182072112 0.00021
NM_002449.5(MSX2):c.*1233T>C rs989259719 0.00019
NM_002449.5(MSX2):c.*306G>T rs886060428 0.00017
NM_002449.5(MSX2):c.*647C>T rs751312423 0.00016
NM_002449.5(MSX2):c.*144C>T rs530005338 0.00013
NM_002449.5(MSX2):c.*1312A>G rs886060434 0.00011
NM_002449.5(MSX2):c.379+7G>C rs569601106 0.00008
NM_002449.5(MSX2):c.699G>A (p.Ala233=) rs201880865 0.00008
NM_002449.5(MSX2):c.*106C>T rs747163618 0.00006
NM_002449.5(MSX2):c.*1206T>C rs77229212 0.00006
NM_002449.5(MSX2):c.*465C>T rs554165494 0.00006
NM_002449.5(MSX2):c.*526T>C rs532200136 0.00006
NM_002449.5(MSX2):c.*863A>G rs886060431 0.00006
NM_002449.5(MSX2):c.286G>T (p.Val96Leu) rs769329948 0.00006
NM_002449.5(MSX2):c.95A>T (p.Glu32Val) rs780593593 0.00006
NM_002449.5(MSX2):c.*46G>T rs375964205 0.00005
NM_002449.5(MSX2):c.*102C>T rs886060426 0.00004
NM_002449.5(MSX2):c.380-9G>C rs769673082 0.00004
NM_002449.5(MSX2):c.49G>A (p.Gly17Ser) rs754789827 0.00004
NM_002449.5(MSX2):c.723G>A (p.Pro241=) rs201103544 0.00004
NM_002449.5(MSX2):c.-42C>T rs758437365 0.00003
NM_002449.5(MSX2):c.255C>T (p.Gly85=) rs367614252 0.00003
NM_002449.5(MSX2):c.379+9G>A rs766596963 0.00003
NM_002449.5(MSX2):c.484C>T (p.Arg162Cys) rs555293970 0.00003
NM_002449.5(MSX2):c.749C>T (p.Pro250Leu) rs374244313 0.00003
NM_002449.5(MSX2):c.751C>T (p.Pro251Ser) rs776218196 0.00003
NM_002449.5(MSX2):c.*126T>C rs1242791605 0.00002
NM_002449.5(MSX2):c.803A>G (p.Ter268=) rs1436220047 0.00002
NM_002449.5(MSX2):c.*644C>T rs970685736 0.00001
NM_002449.5(MSX2):c.174G>A (p.Pro58=) rs1234123597 0.00001
NM_002449.5(MSX2):c.178A>C (p.Lys60Gln) rs1353231469 0.00001
NM_002449.5(MSX2):c.228G>A (p.Leu76=) rs999180495 0.00001
NM_002449.5(MSX2):c.252C>T (p.His84=) rs531764887 0.00001
NM_002449.5(MSX2):c.315G>C (p.Lys105Asn) rs760574628 0.00001
NM_002449.5(MSX2):c.428G>A (p.Arg143Gln) rs751060486 0.00001
NM_002449.5(MSX2):c.515G>A (p.Arg172His) rs104893896 0.00001
NM_002449.5(MSX2):c.635C>G (p.Ala212Gly) rs775062909 0.00001
NM_002449.5(MSX2):c.698C>T (p.Ala233Val) rs138053303 0.00001
NM_002449.5(MSX2):c.750G>A (p.Pro250=) rs760404926 0.00001
NM_002449.5(MSX2):c.756G>A (p.Val252=) rs542254664 0.00001
NM_002449.5(MSX2):c.77C>T (p.Pro26Leu) rs745950729 0.00001
NM_002449.5(MSX2):c.83C>T (p.Pro28Leu) rs1361478485 0.00001
NC_000005.9:g.(?_174151663)_(174156586_?)dup
NM_002449.5(MSX2):c.*1006dup rs397692104
NM_002449.5(MSX2):c.*1086dup rs145784193
NM_002449.5(MSX2):c.*1161C>T rs1760913049
NM_002449.5(MSX2):c.*157A>T rs17063878
NM_002449.5(MSX2):c.*172G>A rs577291689
NM_002449.5(MSX2):c.*289A>G rs886060427
NM_002449.5(MSX2):c.*512G>T rs1760894878
NM_002449.5(MSX2):c.*516A>G rs1760894980
NM_002449.5(MSX2):c.*530A>G rs886060429
NM_002449.5(MSX2):c.*601C>G rs886060430
NM_002449.5(MSX2):c.*878C>T rs554272174
NM_002449.5(MSX2):c.*946T>G rs886060432
NM_002449.5(MSX2):c.-50C>T rs371076863
NM_002449.5(MSX2):c.-56C>A rs113874536
NM_002449.5(MSX2):c.116G>T (p.Arg39Leu)
NM_002449.5(MSX2):c.122A>T (p.Lys41Met) rs1760740243
NM_002449.5(MSX2):c.127T>C (p.Ser43Pro)
NM_002449.5(MSX2):c.143G>C (p.Ser48Thr) rs1760741097
NM_002449.5(MSX2):c.152C>T (p.Ala51Val) rs1344807799
NM_002449.5(MSX2):c.157A>C (p.Met53Leu)
NM_002449.5(MSX2):c.163G>C (p.Asp55His)
NM_002449.5(MSX2):c.177C>T (p.Pro59=)
NM_002449.5(MSX2):c.179A>C (p.Lys60Thr) rs2113491774
NM_002449.5(MSX2):c.197C>G (p.Pro66Arg)
NM_002449.5(MSX2):c.197C>T (p.Pro66Leu)
NM_002449.5(MSX2):c.213G>T (p.Ser71=)
NM_002449.5(MSX2):c.215C>G (p.Ala72Gly)
NM_002449.5(MSX2):c.22A>C (p.Asn8His) rs1760735062
NM_002449.5(MSX2):c.235C>T (p.Leu79=)
NM_002449.5(MSX2):c.23A>G (p.Asn8Ser)
NM_002449.5(MSX2):c.254del (p.Gly85fs)
NM_002449.5(MSX2):c.265_266delinsTA (p.Ala89Ter) rs121912971
NM_002449.5(MSX2):c.2T>C (p.Met1Thr)
NM_002449.5(MSX2):c.304G>A (p.Ala102Thr) rs772051040
NM_002449.5(MSX2):c.304G>C (p.Ala102Pro)
NM_002449.5(MSX2):c.332A>T (p.Asp111Val)
NM_002449.5(MSX2):c.338C>T (p.Ala113Val)
NM_002449.5(MSX2):c.345del (p.Ala114_Trp115insTer) rs121912972
NM_002449.5(MSX2):c.357C>G (p.Pro119=)
NM_002449.5(MSX2):c.360C>T (p.Gly120=) rs778509123
NM_002449.5(MSX2):c.361C>G (p.Arg121Gly)
NM_002449.5(MSX2):c.379+11G>A
NM_002449.5(MSX2):c.379+13C>T
NM_002449.5(MSX2):c.379+8C>G rs1382294618
NM_002449.5(MSX2):c.380-11C>G
NM_002449.5(MSX2):c.380-16T>A
NM_002449.5(MSX2):c.380-17CT[3]
NM_002449.5(MSX2):c.380-18C>G rs200429446
NM_002449.5(MSX2):c.380-18C>T
NM_002449.5(MSX2):c.386_387inv (p.Met129Thr)
NM_002449.5(MSX2):c.39C>T (p.Pro13=)
NM_002449.5(MSX2):c.437G>A (p.Arg146His)
NM_002449.5(MSX2):c.43G>A (p.Glu15Lys)
NM_002449.5(MSX2):c.442C>T (p.Pro148Ser) rs1581520079
NM_002449.5(MSX2):c.443C>A (p.Pro148His) rs104893895
NM_002449.5(MSX2):c.443C>T (p.Pro148Leu) rs104893895
NM_002449.5(MSX2):c.444C>T (p.Pro148=)
NM_002449.5(MSX2):c.449C>G (p.Thr150Ser) rs2113498683
NM_002449.5(MSX2):c.451A>G (p.Thr151Ala)
NM_002449.5(MSX2):c.452C>T (p.Thr151Ile)
NM_002449.5(MSX2):c.457C>T (p.Gln153Ter) rs2113498696
NM_002449.5(MSX2):c.465C>T (p.Leu155=)
NM_002449.5(MSX2):c.474G>A (p.Glu158=)
NM_002449.5(MSX2):c.475_480del (p.Arg159_Lys160del) rs2113498725
NM_002449.5(MSX2):c.479A>G (p.Lys160Arg)
NM_002449.5(MSX2):c.501C>T (p.Leu167=)
NM_002449.5(MSX2):c.505A>G (p.Ile169Val) rs2113498787
NM_002449.5(MSX2):c.50G>T (p.Gly17Val)
NM_002449.5(MSX2):c.528C>T (p.Ser176=)
NM_002449.5(MSX2):c.548_555del (p.Glu183fs) rs1561643060
NM_002449.5(MSX2):c.572A>G (p.Gln191Arg) rs1760875161
NM_002449.5(MSX2):c.591G>A (p.Ala197=)
NM_002449.5(MSX2):c.597A>G (p.Arg199=)
NM_002449.5(MSX2):c.613C>G (p.Leu205Val)
NM_002449.5(MSX2):c.643A>T (p.Met215Leu)
NM_002449.5(MSX2):c.645G>A (p.Met215Ile)
NM_002449.5(MSX2):c.653C>T (p.Ser218Phe)
NM_002449.5(MSX2):c.670T>C (p.Phe224Leu)
NM_002449.5(MSX2):c.683C>T (p.Ser228Leu)
NM_002449.5(MSX2):c.712G>A (p.Ala238Thr) rs1435910539
NM_002449.5(MSX2):c.722C>T (p.Pro241Leu)
NM_002449.5(MSX2):c.726C>A (p.Phe242Leu)
NM_002449.5(MSX2):c.73G>C (p.Gly25Arg)
NM_002449.5(MSX2):c.745A>G (p.Ile249Val) rs1760880294
NM_002449.5(MSX2):c.762C>G (p.Leu254=)
NM_002449.5(MSX2):c.764A>G (p.Tyr255Cys)
NM_002449.5(MSX2):c.771G>A (p.Thr257=)
NM_002449.5(MSX2):c.789G>A (p.Met263Ile)
NM_002449.5(MSX2):c.798G>C (p.Leu266=)

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