List of variants in gene TMEM237 reported as pathogenic for Joubert syndrome 14

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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: 25

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HGVS	dbSNP	gnomAD frequency
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter)	rs199469707	0.00006
NM_001044385.3(TMEM237):c.901C>T (p.Arg301Ter)	rs775449384	0.00004
NM_001044385.3(TMEM237):c.553+1G>A	rs80034299	0.00002
NM_001044385.3(TMEM237):c.943+1G>T	rs748510210	0.00002
NM_001044385.3(TMEM237):c.278T>A (p.Leu93Ter)	rs1687223389	0.00001
NM_001044385.3(TMEM237):c.677+1G>A	rs793888505	0.00001
NC_000002.11:g.(?_202508062)_(202508123_?)del
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs)	rs751952525
NM_001044385.3(TMEM237):c.128dup (p.Asn43fs)
NM_001044385.3(TMEM237):c.175C>T (p.Arg59Ter)	rs902145121
NM_001044385.3(TMEM237):c.275-2A>G	rs1574582671
NM_001044385.3(TMEM237):c.314C>G (p.Ser105Ter)	rs2105900861
NM_001044385.3(TMEM237):c.325C>T (p.Arg109Ter)	rs565778005
NM_001044385.3(TMEM237):c.413_420del (p.Glu138fs)
NM_001044385.3(TMEM237):c.470_473dup (p.Thr159fs)	rs1957813141
NM_001044385.3(TMEM237):c.605_606del (p.Ile202fs)	rs756970007
NM_001044385.3(TMEM237):c.606_609dup (p.Val204fs)	rs2105899220
NM_001044385.3(TMEM237):c.62del (p.Pro21fs)	rs1574587553
NM_001044385.3(TMEM237):c.677+1G>T	rs793888505
NM_001044385.3(TMEM237):c.694dup (p.Ser232fs)
NM_001044385.3(TMEM237):c.725G>A (p.Trp242Ter)
NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter)	rs387907131
NM_001044385.3(TMEM237):c.869+1G>A	rs730882231
NM_001044385.3(TMEM237):c.869+1del	rs1311551510
NM_001044385.3(TMEM237):c.890C>G (p.Ser297Ter)	rs768528861

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