ClinVar Miner

List of variants reported as uncertain significance for craniosynostosis 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 34
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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.*102C>T rs886060426 0.00004
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.635C>G (p.Ala212Gly) rs775062909 0.00001
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.122A>T (p.Lys41Met) rs1760740243
NM_002449.5(MSX2):c.304G>A (p.Ala102Thr) rs772051040
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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