ClinVar Miner

List of variants in gene TMEM216 studied for Joubert syndrome 2; Meckel syndrome, type 2

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) rs762918371 0.00052
NM_001173990.3(TMEM216):c.113A>G (p.Glu38Gly) rs568253718 0.00036
NM_001173990.3(TMEM216):c.277G>A (p.Val93Met) rs541257103 0.00004
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His) rs752216307 0.00004
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter) rs755459875 0.00003
NM_001173990.3(TMEM216):c.35-2A>G rs1057517528 0.00002
NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln) rs548299486 0.00001
NM_001173990.3(TMEM216):c.1A>G (p.Met1Val) rs1287246452 0.00001
NM_001173990.3(TMEM216):c.222del (p.Phe76fs) rs1057517512 0.00001
NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys) rs1554972406 0.00001
NM_001173990.3(TMEM216):c.34+12G>C rs1336106190 0.00001
NM_001173990.3(TMEM216):c.34+2T>C rs1057517498 0.00001
NM_001173990.3(TMEM216):c.406G>A (p.Val136Met) rs75668329 0.00001
NM_001173990.3(TMEM216):c.-9_11del (p.Met1fs) rs1554972400
NM_001173990.3(TMEM216):c.103T>C (p.Phe35Leu)
NM_001173990.3(TMEM216):c.137-17G>A
NM_001173990.3(TMEM216):c.137-1G>A rs1554972547
NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs) rs1554972556
NM_001173990.3(TMEM216):c.201T>A (p.Leu67=)
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) rs201108965
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.3(TMEM216):c.229+1G>A rs2135191306
NM_001173990.3(TMEM216):c.22A>G (p.Met8Val)
NM_001173990.3(TMEM216):c.230-11G>A
NM_001173990.3(TMEM216):c.230-16G>A
NM_001173990.3(TMEM216):c.230-1G>C
NM_001173990.3(TMEM216):c.230-2A>G rs1211592806
NM_001173990.3(TMEM216):c.230-9dup rs1554972934
NM_001173990.3(TMEM216):c.246_247del (p.Cys83fs)
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001173990.3(TMEM216):c.265C>G (p.Leu89Val)
NM_001173990.3(TMEM216):c.265C>T (p.Leu89Phe)
NM_001173990.3(TMEM216):c.281C>T (p.Ala94Val)
NM_001173990.3(TMEM216):c.2T>C (p.Met1Thr) rs1554972406
NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs) rs1554972958
NM_001173990.3(TMEM216):c.323T>C (p.Leu108Pro)
NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter) rs147267631
NM_001173990.3(TMEM216):c.337G>C (p.Val113Leu)
NM_001173990.3(TMEM216):c.338dup (p.Leu114fs) rs1554972964
NM_001173990.3(TMEM216):c.34+18_34+21del rs940443692
NM_001173990.3(TMEM216):c.347T>A (p.Leu116Gln)
NM_001173990.3(TMEM216):c.35-13_36del rs1057520085
NM_001173990.3(TMEM216):c.395_398del (p.Leu132fs)
NM_001173990.3(TMEM216):c.406G>T (p.Val136Leu)
NM_001173990.3(TMEM216):c.413C>T (p.Thr138Ile)
NM_001173990.3(TMEM216):c.432-10_432-8delinsAGTG rs1554973024
NM_001173990.3(TMEM216):c.432-10delinsAA rs1554973021
NM_001173990.3(TMEM216):c.432-10delinsAC rs1554973021
NM_001173990.3(TMEM216):c.432-1G>T
NM_001173990.3(TMEM216):c.432-8A>G
NM_001173990.3(TMEM216):c.67del (p.Leu23fs) rs1565088283
NM_001173990.3(TMEM216):c.77T>A (p.Leu26Gln)
NM_001173990.3(TMEM216):c.7C>A (p.Pro3Thr) rs1554972409

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