ClinVar Miner

List of variants in gene FREM1 reported as pathogenic for not provided

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001379081.2(FREM1):c.1288C>T (p.Arg430Ter) rs369363695 0.00006
GRCh37/hg19 9p22.3(chr9:14757743-14830372)x1
NC_000009.11:g.(?_14737394)_(14868975_?)del
NC_000009.11:g.(?_14801630)_(14859502_?)del
NM_001370058.2(FREM1):c.1596+455del
NM_001379081.2(FREM1):c.3439G>T (p.Glu1147Ter)
NM_001379081.2(FREM1):c.3910G>T (p.Glu1304Ter) rs1131691724
NM_001379081.2(FREM1):c.3925del (p.Glu1309fs) rs773469926
NM_001379081.2(FREM1):c.4178-1G>A rs2132864714
NM_001379081.2(FREM1):c.4312C>T (p.Arg1438Ter)
NM_001379081.2(FREM1):c.4375dup (p.Asp1459fs) rs2132858731
NM_001379081.2(FREM1):c.4941C>A (p.Tyr1647Ter) rs373880888

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