List of variants in gene CC2D2A reported as benign for Joubert syndrome; 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 42

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HGVS	dbSNP	gnomAD frequency
NM_001378615.1(CC2D2A):c.3183-8T>C	rs13121363	0.69106
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=)	rs73125627	0.20422
NM_001378615.1(CC2D2A):c.124-6C>T	rs1861049	0.15686
NM_001378615.1(CC2D2A):c.2003+19C>T	rs17476642	0.09677
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=)	rs1861050	0.07770
NM_001378615.1(CC2D2A):c.777C>T (p.His259=)	rs2286976	0.04586
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala)	rs16892095	0.03933
NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys)	rs62000428	0.00732
NM_001378615.1(CC2D2A):c.541-20T>G	rs114335547	0.00664
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu)	rs144439937	0.00644
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys)	rs61734948	0.00615
NM_001378615.1(CC2D2A):c.2475C>T (p.Ile825=)	rs113835820	0.00275
NM_001378615.1(CC2D2A):c.4202C>G (p.Thr1401Ser)	rs143947747	0.00192
NM_001378615.1(CC2D2A):c.2487-11C>G	rs374783761	0.00154
NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg)	rs186264635	0.00121
NM_001378615.1(CC2D2A):c.2813T>C (p.Met938Thr)	rs61740537	0.00117
NM_001378615.1(CC2D2A):c.1017+7G>A	rs137919504	0.00080
NM_001378615.1(CC2D2A):c.1956G>A (p.Pro652=)	rs375131519	0.00079
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser)	rs199768782	0.00061
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=)	rs371086728	0.00056
NM_001378615.1(CC2D2A):c.4648C>T (p.Leu1550=)	rs199861496	0.00051
NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn)	rs190694237	0.00038
NM_001378615.1(CC2D2A):c.3399-15T>C	rs181612746	0.00033
NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu)	rs201465430	0.00029
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met)	rs201954181	0.00025
NM_001378615.1(CC2D2A):c.717+11T>C	rs184351317	0.00017
NM_001378615.1(CC2D2A):c.1830G>A (p.Pro610=)	rs185072004	0.00014
NM_001378615.1(CC2D2A):c.2117G>A (p.Arg706Gln)	rs778205727	0.00009
NM_001378615.1(CC2D2A):c.3872T>C (p.Ile1291Thr)	rs370492044	0.00009
NM_001378615.1(CC2D2A):c.2259C>T (p.Val753=)	rs538922641	0.00008
NM_001378615.1(CC2D2A):c.541-5G>A	rs369022150	0.00001
NM_001378615.1(CC2D2A):c.1607+12del	rs1717952725
NM_001378615.1(CC2D2A):c.1978G>A (p.Val660Ile)	rs16892134
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu)	rs16892134
NM_001378615.1(CC2D2A):c.248-16del	rs2474888328
NM_001378615.1(CC2D2A):c.2922+10dup	rs752271495
NM_001378615.1(CC2D2A):c.4066-12del	rs752759735
NM_001378615.1(CC2D2A):c.439-13del	rs749591324
NM_001378615.1(CC2D2A):c.4675-9del
NM_001378615.1(CC2D2A):c.4675-9dup	rs768070983
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del)	rs386833764
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=)	rs116198081

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