List of variants in gene CC2D2A studied for COACH syndrome 1; Meckel syndrome, type 6; Joubert syndrome 9

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: 15

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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.3869T>C (p.Val1290Ala)	rs200427832	0.00073
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg)	rs200764366	0.00067
NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His)	rs150093365	0.00057
NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val)	rs188891842	0.00051
NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys)	rs201219078	0.00023
NM_001378615.1(CC2D2A):c.3135G>A (p.Val1045=)	rs371608031	0.00015
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter)	rs370880399	0.00011
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys)	rs201439617	0.00010
NM_001378615.1(CC2D2A):c.2624C>T (p.Ser875Leu)	rs200904521	0.00009
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter)	rs781252161	0.00001
NM_001378615.1(CC2D2A):c.1946C>T (p.Thr649Met)	rs201884883
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)	rs764719093
NM_001378615.1(CC2D2A):c.3211_3220del (p.Arg1071fs)	rs1719933188
NM_001378615.1(CC2D2A):c.676G>A (p.Glu226Lys)	rs1716561509

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