ClinVar Miner

List of variants in gene LONP1 reported as likely pathogenic for not provided

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_004793.4(LONP1):c.1612C>T (p.Arg538Cys) rs201664019 0.00017
NM_004793.4(LONP1):c.1072C>T (p.Arg358Trp)
NM_004793.4(LONP1):c.161dup (p.Trp55fs) rs1555715029
NM_004793.4(LONP1):c.2008G>T (p.Ala670Ser) rs1057521679
NM_004793.4(LONP1):c.2154+2T>C
NM_004793.4(LONP1):c.2160dup (p.Arg721fs)
NM_004793.4(LONP1):c.2590_2615del (p.Leu864fs) rs1555708276
NM_004793.4(LONP1):c.518+1G>A rs1555713731
NM_004793.4(LONP1):c.859G>T (p.Glu287Ter) rs1555713236
NM_004793.4(LONP1):c.901C>T (p.Arg301Trp)

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