ClinVar Miner

List of variants in gene FREM2 studied for Fraser syndrome 1

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_207361.6(FREM2):c.576G>A (p.Glu192=) rs1868464 0.99992
NM_207361.6(FREM2):c.6977C>T (p.Thr2326Ile) rs9548509 0.73365
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser) rs2496425 0.43515
NM_207361.6(FREM2):c.2250C>T (p.Asp750=) rs41292755 0.07615
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) rs116099212 0.00379
NM_207361.5(FREM2):c.-285C>G rs573143355 0.00312
NM_207361.6(FREM2):c.*2390_*2392del rs149897768 0.00283
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.6727C>T (p.Arg2243Ter) rs767978562 0.00001
NM_207361.6(FREM2):c.8176+2dup rs779126010 0.00001
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.*5627del rs5802961
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.2833del (p.His945fs) rs759257554
NM_207361.6(FREM2):c.3761T>A (p.Leu1254Ter)
NM_207361.6(FREM2):c.475G>A (p.Ala159Thr)
NM_207361.6(FREM2):c.5503G>A (p.Ala1835Thr) rs767743882
NM_207361.6(FREM2):c.6350_6351del (p.Thr2117fs) rs752032044
NM_207361.6(FREM2):c.6625dup (p.Tyr2209fs) rs2137911471
NM_207361.6(FREM2):c.7520-5del rs36084034
NM_207361.6(FREM2):c.8451dup (p.Cys2818fs)

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