ClinVar Miner

List of variants in gene MSX2 reported as uncertain significance for central nervous system malformation

Included ClinVar conditions (164):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
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.*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.*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.*106C>T rs747163618 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.484C>T (p.Arg162Cys) rs555293970 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.*644C>T rs970685736 0.00001
NM_002449.5(MSX2):c.178A>C (p.Lys60Gln) rs1353231469 0.00001
NM_002449.5(MSX2):c.428G>A (p.Arg143Gln) rs751060486 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.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.*1161C>T rs1760913049
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.*946T>G rs886060432
NM_002449.5(MSX2):c.-50C>T rs371076863
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.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.215C>G (p.Ala72Gly)
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.361C>G (p.Arg121Gly)
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.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.479A>G (p.Lys160Arg)
NM_002449.5(MSX2):c.505A>G (p.Ile169Val) rs2113498787
NM_002449.5(MSX2):c.50G>T (p.Gly17Val)
NM_002449.5(MSX2):c.572A>G (p.Gln191Arg) rs1760875161
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.764A>G (p.Tyr255Cys)
NM_002449.5(MSX2):c.789G>A (p.Met263Ile)

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