ClinVar Miner

List of variants in gene TMEM237 reported as likely benign for Joubert syndrome with ocular defect

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP
NM_001044385.3(TMEM237):c.*1107C>T rs143516209
NM_001044385.3(TMEM237):c.*1588G>A
NM_001044385.3(TMEM237):c.*1975C>G
NM_001044385.3(TMEM237):c.*2137A>G
NM_001044385.3(TMEM237):c.*2142G>C rs76042698
NM_001044385.3(TMEM237):c.*2180G>A
NM_001044385.3(TMEM237):c.*2349C>T
NM_001044385.3(TMEM237):c.*2431T>G rs142355657
NM_001044385.3(TMEM237):c.*2480T>G rs75655554
NM_001044385.3(TMEM237):c.*2719G>A rs142852956
NM_001044385.3(TMEM237):c.*3124A>T
NM_001044385.3(TMEM237):c.*3372C>T rs192214909
NM_001044385.3(TMEM237):c.*3453T>G rs77771615
NM_001044385.3(TMEM237):c.*439G>A
NM_001044385.3(TMEM237):c.*634C>T
NM_001044385.3(TMEM237):c.-25G>A rs568671275
NM_001044385.3(TMEM237):c.1038-18G>C
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met) rs138509553
NM_001044385.3(TMEM237):c.114G>A (p.Lys38=) rs770907860
NM_001044385.3(TMEM237):c.1176A>G (p.Ser392=) rs773344011
NM_001044385.3(TMEM237):c.1212C>T (p.Ile404=) rs1317494328
NM_001044385.3(TMEM237):c.136+7C>T
NM_001044385.3(TMEM237):c.136+8G>A rs200618675
NM_001044385.3(TMEM237):c.15G>C (p.Ser5=)
NM_001044385.3(TMEM237):c.176G>A (p.Arg59Gln) rs199624987
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=) rs372100073
NM_001044385.3(TMEM237):c.194A>G (p.Asn65Ser) rs141817764
NM_001044385.3(TMEM237):c.24G>A (p.Arg8=) rs377090903
NM_001044385.3(TMEM237):c.275-9T>C
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006
NM_001044385.3(TMEM237):c.405G>A (p.Gln135=) rs370418884
NM_001044385.3(TMEM237):c.42+15G>A
NM_001044385.3(TMEM237):c.471A>G (p.Gln157=)
NM_001044385.3(TMEM237):c.51A>G (p.Pro17=)
NM_001044385.3(TMEM237):c.553+9A>T
NM_001044385.3(TMEM237):c.554-10G>A
NM_001044385.3(TMEM237):c.66T>A (p.Pro22=) rs370010097
NM_001044385.3(TMEM237):c.672T>G (p.Ala224=)
NM_001044385.3(TMEM237):c.678-13C>T
NM_001044385.3(TMEM237):c.738G>A (p.Val246=) rs199947989
NM_001044385.3(TMEM237):c.74+15C>T rs375401635
NM_001044385.3(TMEM237):c.747T>A (p.Val249=)
NM_001044385.3(TMEM237):c.75-8C>T rs1274569461
NM_001044385.3(TMEM237):c.778A>G (p.Asn260Asp) rs151163650
NM_001044385.3(TMEM237):c.79+8del
NM_001044385.3(TMEM237):c.80-11T>C rs76296365
NM_001044385.3(TMEM237):c.858A>G (p.Ser286=)
NM_001044385.3(TMEM237):c.936A>G (p.Ala312=)
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys) rs200714434

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