ClinVar Miner

List of variants in gene FREM2 reported as uncertain significance for Fraser syndrome 1

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_207361.5(FREM2):c.-285C>G rs573143355 0.00312
NM_207361.6(FREM2):c.*5615_*5616insG rs886050216 0.00074
NM_207361.6(FREM2):c.*5552C>T rs886050214 0.00013
NM_207361.6(FREM2):c.*1666_*1667del rs534520921 0.00011
NM_207361.6(FREM2):c.*2458G>C rs886050203 0.00003
NM_207361.6(FREM2):c.*1897CCTTT[3] rs886050201
NM_207361.6(FREM2):c.*3718A>G rs886050208
NM_207361.6(FREM2):c.*5530TTG[1] rs886050212
NM_207361.6(FREM2):c.*5552CA[6] rs886050213
NM_207361.6(FREM2):c.*5590TA[6] rs34936389
NM_207361.6(FREM2):c.*5600GA[7] rs5802960
NM_207361.6(FREM2):c.*5870del rs886050220
NM_207361.6(FREM2):c.*6148_*6151del rs886050221
NM_207361.6(FREM2):c.135G>T (p.Pro45=) rs886050186
NM_207361.6(FREM2):c.215T>C (p.Ile72Thr)
NM_207361.6(FREM2):c.475G>A (p.Ala159Thr)
NM_207361.6(FREM2):c.5503G>A (p.Ala1835Thr) rs767743882

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