ClinVar Miner

List of variants in gene FRMPD4 reported as pathogenic for X-linked disease

Included ClinVar conditions (311):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NC_000023.10:g.12515801_12581900del
NM_014728.3(FRMPD4):c.1657T>C (p.Cys553Arg) rs886038209
NM_014728.3(FRMPD4):c.1851del (p.Cys618fs) rs886038208
NM_014728.3(FRMPD4):c.856C>T (p.Arg286Ter) rs1569057837

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