ClinVar Miner

List of variants studied for Heimler syndrome 2

Included ClinVar conditions (2):
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Total variants: 14
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NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile) rs61753224
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.4(PEX6):c.1841del (p.Leu614fs) rs863225083
NM_000287.4(PEX6):c.1930C>T (p.Arg644Trp) rs769896492
NM_000287.4(PEX6):c.2300+2T>C rs1581760028
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241
NM_000287.4(PEX6):c.2714G>T (p.Cys905Phe) rs886037782
NM_000287.4(PEX6):c.275T>G (p.Val92Gly) rs886037780
NM_000287.4(PEX6):c.296G>T (p.Arg99Leu) rs886037781
NM_000287.4(PEX6):c.386A>T (p.Glu129Val) rs1561831003
NM_000287.4(PEX6):c.654C>G (p.Phe218Leu) rs886037779
NM_000287.4(PEX6):c.719C>G (p.Ala240Gly) rs372269200
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219

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