ClinVar Miner

List of variants in gene FREM2 reported by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_207361.6(FREM2):c.2233= (p.Pro745=) rs2496423 0.99994
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.2250C>T (p.Asp750=) rs41292755 0.07615
NM_207361.6(FREM2):c.4901C>T (p.Thr1634Met) rs74781600 0.00872
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921 0.00430
NM_207361.6(FREM2):c.8460C>G (p.Ala2820=) rs138775857 0.00325
NM_207361.6(FREM2):c.84C>G (p.Pro28=) rs141718695 0.00194
NM_207361.6(FREM2):c.7323G>A (p.Ala2441=) rs147563277 0.00155
NM_207361.6(FREM2):c.5642-9T>C rs148794835 0.00141
NM_207361.6(FREM2):c.5417G>A (p.Gly1806Asp) rs145208009 0.00101
NM_207361.6(FREM2):c.7590C>T (p.Gly2530=) rs200338297 0.00079
NM_207361.6(FREM2):c.2432G>A (p.Gly811Glu) rs147293913 0.00031
NM_207361.6(FREM2):c.1250T>C (p.Leu417Pro) rs571694324 0.00003
NM_207361.6(FREM2):c.2206C>T (p.Arg736Ter) rs939534674 0.00002
NM_207361.6(FREM2):c.5138A>G (p.Asp1713Gly) rs778728471 0.00002
NM_207361.6(FREM2):c.2308G>A (p.Val770Met) rs7327915

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