List of variants in gene TMEM237 reported as benign for Joubert syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_001044385.3(TMEM237):c.274+23A>G	rs1208081	0.64988
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser)	rs73989521	0.07946
NM_001044385.3(TMEM237):c.395+7A>G	rs78297522	0.01932
NM_001044385.3(TMEM237):c.*1489G>C	rs78220061	0.00855
NM_001044385.3(TMEM237):c.75-13T>C	rs116829037	0.00764
NM_001044385.3(TMEM237):c.80-11T>C	rs76296365	0.00503
NM_001044385.3(TMEM237):c.136+8G>A	rs200618675	0.00220
NM_001044385.3(TMEM237):c.554-15G>A	rs144051344	0.00213
NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=)	rs77570029	0.00211
NM_001044385.3(TMEM237):c.396-14C>T	rs74411816	0.00210
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=)	rs191125006	0.00163
NM_001044385.3(TMEM237):c.*564T>C	rs141560423	0.00113
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=)	rs149240122	0.00111
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala)	rs199500256	0.00034
NM_001044385.3(TMEM237):c.869+10A>G	rs376868416	0.00016
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp)	rs372686071	0.00004
NM_001044385.3(TMEM237):c.274+11A>G	rs200487330	0.00004
NM_001044385.3(TMEM237):c.396-13G>A	rs570600190	0.00003
NM_001044385.3(TMEM237):c.74+16A>G	rs538615771	0.00002
NM_001044385.3(TMEM237):c.1159+17del	rs766664373
NM_001044385.3(TMEM237):c.1159+17dup
NM_001044385.3(TMEM237):c.678-20_678-17del	rs754336127
NM_001044385.3(TMEM237):c.80-18dup	rs747217784
NM_001044385.3(TMEM237):c.870-13_870-12del	rs555284377

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