ClinVar Miner

List of variants in gene TMEM216 reported as uncertain significance for Joubert syndrome

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP
NC_000011.10:g.61392347A>G
NM_001173990.3(TMEM216):c.*107G>T rs535550368
NM_001173990.3(TMEM216):c.*190A>G
NM_001173990.3(TMEM216):c.*247C>T rs886048413
NM_001173990.3(TMEM216):c.*335G>A rs886048414
NM_001173990.3(TMEM216):c.*372C>T rs565159932
NM_001173990.3(TMEM216):c.*377T>C
NM_001173990.3(TMEM216):c.*393C>T
NM_001173990.3(TMEM216):c.*525T>G
NM_001173990.3(TMEM216):c.*548T>A
NM_001173990.3(TMEM216):c.*93T>C rs746881860
NM_001173990.3(TMEM216):c.-24C>T rs59493015
NM_001173990.3(TMEM216):c.-9_11del (p.Met1fs) rs1554972400
NM_001173990.3(TMEM216):c.113A>G (p.Glu38Gly) rs568253718
NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln)
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) rs762918371
NM_001173990.3(TMEM216):c.1A>G (p.Met1Val) rs1287246452
NM_001173990.3(TMEM216):c.229+5G>A
NM_001173990.3(TMEM216):c.230-9G>A rs886048412
NM_001173990.3(TMEM216):c.230-9dup rs1554972934
NM_001173990.3(TMEM216):c.254G>A (p.Arg85Gln)
NM_001173990.3(TMEM216):c.257A>G (p.Lys86Arg)
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) rs201614099
NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys) rs1554972406
NM_001173990.3(TMEM216):c.2T>C (p.Met1Thr) rs1554972406
NM_001173990.3(TMEM216):c.322C>A (p.Leu108Met)
NM_001173990.3(TMEM216):c.338dup (p.Leu114fs) rs1554972964
NM_001173990.3(TMEM216):c.343C>T (p.Arg115Cys) rs774225426
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His) rs752216307
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) rs200289511
NM_001173990.3(TMEM216):c.359T>C (p.Met120Thr)
NM_001173990.3(TMEM216):c.382T>C (p.Cys128Arg)
NM_001173990.3(TMEM216):c.40C>T (p.Arg14Trp)
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) rs749351351
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.57G>T (p.Pro19=) rs769285695
NM_001173991.2(TMEM216):c.-242C>T rs756981776
NM_001173991.2(TMEM216):c.-264C>T
NM_016499.5(TMEM216):c.-325A>C rs886048411

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