ClinVar Miner

List of variants in gene MSX2 studied for bone development disease

Included ClinVar conditions (614):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 66
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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.*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.*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.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.*46G>T rs375964205 0.00005
NM_002449.5(MSX2):c.*102C>T rs886060426 0.00004
NM_002449.5(MSX2):c.-42C>T rs758437365 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.315G>C (p.Lys105Asn) rs760574628 0.00001
NM_002449.5(MSX2):c.635C>G (p.Ala212Gly) rs775062909 0.00001
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.122A>T (p.Lys41Met) rs1760740243
NM_002449.5(MSX2):c.304G>A (p.Ala102Thr) rs772051040
NM_002449.5(MSX2):c.441_442dup (p.Pro148fs)
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.698dup (p.Ser234fs) rs1760878980
NM_002449.5(MSX2):c.712G>A (p.Ala238Thr) rs1435910539
NM_002449.5(MSX2):c.793C>T (p.His265Tyr) rs1760881974

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