ClinVar Miner

List of variants in gene NOD2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001370466.1(NOD2):c.-8-2238G>C rs976567823 0.00005
NM_001370466.1(NOD2):c.1450A>G (p.Thr484Ala) rs759153904 0.00005
NM_001370466.1(NOD2):c.417A>T (p.Glu139Asp) rs749605438 0.00004
NM_001370466.1(NOD2):c.2056C>T (p.Arg686Cys) rs104895440 0.00002
NM_001370466.1(NOD2):c.815G>A (p.Gly272Asp) rs771184127 0.00002
NM_001370466.1(NOD2):c.1490A>C (p.His497Pro) rs756269477 0.00001
NM_001370466.1(NOD2):c.2176C>T (p.Arg726Trp) rs749720540 0.00001
NM_001370466.1(NOD2):c.955C>T (p.Arg319Trp) rs753537879 0.00001
NM_001370466.1(NOD2):c.1182G>C (p.Lys394Asn)
NM_001370466.1(NOD2):c.1501C>G (p.Pro501Ala)
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) rs2066845
NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys) rs2066845
NM_001370466.1(NOD2):c.347G>A (p.Arg116Lys) rs1596827607
NM_001370466.1(NOD2):c.539C>G (p.Pro180Arg) rs1596852030
NM_001370466.1(NOD2):c.550G>T (p.Ala184Ser) rs771887760
NM_001370466.1(NOD2):c.677C>A (p.Thr226Lys)

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