ClinVar Miner

List of variants in gene CC2D2A reported as uncertain significance for Meckel-Gruber syndrome

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Total variants: 6
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HGVS dbSNP
NM_001378615.1(CC2D2A):c.2339-10_2339-9del rs886059157
NM_001378615.1(CC2D2A):c.2486+8A>G rs749186859
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641
NM_001378615.1(CC2D2A):c.3365C>G (p.Pro1122Arg) rs886059182
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401
NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237

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