ClinVar Miner

List of variants in gene MEGF8 reported as uncertain significance for Carpenter syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_001410.2(MEGF8):c.1024G>A (p.Val342Met)
NM_001410.2(MEGF8):c.1391-3C>T
NM_001410.2(MEGF8):c.1921C>T (p.Leu641Phe) rs1555781030
NM_001410.2(MEGF8):c.2249A>G (p.His750Arg)
NM_001410.2(MEGF8):c.2452G>A (p.Gly818Arg)
NM_001410.2(MEGF8):c.2488C>T (p.Leu830Phe)
NM_001410.2(MEGF8):c.2809C>T (p.Arg937Trp) rs141383715
NM_001410.2(MEGF8):c.3059C>T (p.Pro1020Leu)
NM_001410.2(MEGF8):c.3983C>T (p.Ser1328Phe)
NM_001410.2(MEGF8):c.4121G>A (p.Gly1374Asp) rs1229026252
NM_001410.2(MEGF8):c.428C>T (p.Pro143Leu) rs765654107
NM_001410.2(MEGF8):c.4655C>T (p.Ala1552Val)
NM_001410.2(MEGF8):c.5080C>G (p.Leu1694Val) rs150607375
NM_001410.2(MEGF8):c.5323G>C (p.Val1775Leu)
NM_001410.2(MEGF8):c.5863A>G (p.Thr1955Ala) rs779853780
NM_001410.2(MEGF8):c.6094C>T (p.Pro2032Ser)
NM_001410.2(MEGF8):c.6109G>T (p.Ala2037Ser)
NM_001410.2(MEGF8):c.6299C>T (p.Pro2100Leu)
NM_001410.2(MEGF8):c.6514C>T (p.Arg2172Cys)
NM_001410.2(MEGF8):c.6847G>A (p.Val2283Met)
NM_001410.2(MEGF8):c.7199G>A (p.Arg2400His) rs757739507
NM_001410.2(MEGF8):c.7366A>G (p.Thr2456Ala)
NM_001410.2(MEGF8):c.7430G>A (p.Arg2477Gln) rs754329335
NM_001410.2(MEGF8):c.7856T>G (p.Leu2619Trp) rs1555785144
NM_001410.2(MEGF8):c.8321C>G (p.Thr2774Ser) rs914088074
NM_001410.2(MEGF8):c.919G>A (p.Val307Met)

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