ClinVar Miner

List of variants in gene FREM2 reported as pathogenic for eyelid disorder

Included ClinVar conditions (80):
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_207361.6(FREM2):c.5162dup (p.Phe1722fs) rs769926034 0.00004
NM_207361.6(FREM2):c.6499C>T (p.Arg2167Trp) rs114837786 0.00003
NM_207361.6(FREM2):c.2206C>T (p.Arg736Ter) rs939534674 0.00002
NM_207361.6(FREM2):c.4063C>T (p.Arg1355Ter) rs765324128 0.00001
NM_207361.6(FREM2):c.6727C>T (p.Arg2243Ter) rs767978562 0.00001
NM_207361.6(FREM2):c.1266del (p.Asp423fs) rs1869623039
NM_207361.6(FREM2):c.15del (p.Thr6fs) rs1869502750
NM_207361.6(FREM2):c.1930C>T (p.Gln644Ter) rs1869683236
NM_207361.6(FREM2):c.2303C>G (p.Ser768Ter) rs2138066721
NM_207361.6(FREM2):c.2689C>T (p.Gln897Ter)
NM_207361.6(FREM2):c.3103_3104del (p.Leu1036fs) rs1555261304
NM_207361.6(FREM2):c.3297dup (p.Asp1100Ter)
NM_207361.6(FREM2):c.3890del (p.Ile1297fs) rs776269575
NM_207361.6(FREM2):c.399del (p.Gly134fs) rs1869545423
NM_207361.6(FREM2):c.5309G>A (p.Trp1770Ter) rs1566133616
NM_207361.6(FREM2):c.5914G>A (p.Glu1972Lys) rs121434356
NM_207361.6(FREM2):c.6186_6188delinsAATTACAGAA (p.Gly2063fs) rs1877244252
NM_207361.6(FREM2):c.750_751dup (p.Thr251fs) rs1869579851
NM_207361.6(FREM2):c.7519+1G>A rs1566169711
NM_207361.6(FREM2):c.8451dup (p.Cys2818fs)

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