List of variants in gene CC2D2A studied for Meckel-Gruber syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln)	rs187003641	0.00142
NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn)	rs190694237	0.00026
NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter)	rs377177061	0.00006
NM_001378615.1(CC2D2A):c.4407C>G (p.Ser1469Arg)	rs587779732	0.00003
NM_001378615.1(CC2D2A):c.2486+8A>G	rs749186859	0.00001
NM_001378615.1(CC2D2A):c.4384T>C (p.Trp1462Arg)	rs368720062	0.00001
NM_001378615.1(CC2D2A):c.1538G>A (p.Trp513Ter)	rs2109029867
NM_001378615.1(CC2D2A):c.2339-10_2339-9del	rs886059157
NM_001378615.1(CC2D2A):c.3365C>G (p.Pro1122Arg)	rs886059182
NM_001378615.1(CC2D2A):c.3626del (p.Pro1209fs)	rs2109077865
NM_001378615.1(CC2D2A):c.4179+1del	rs386833760
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del)	rs386833764

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