ClinVar Miner

List of variants in gene B9D2 studied for Joubert syndrome; Meckel-Gruber syndrome

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_030578.4(B9D2):c.33A>G (p.Ile11Met) rs2241714 0.71244
NM_030578.4(B9D2):c.-5+107G>A rs2241712 0.70278
NM_030578.4(B9D2):c.*18G>A rs1800468 0.05927
NM_030578.4(B9D2):c.215-16C>G rs3087453 0.01260
NM_030578.4(B9D2):c.195C>T (p.Phe65=) rs34088631 0.00251
NM_030578.4(B9D2):c.88+6C>T rs112498529 0.00205
NM_030578.4(B9D2):c.183C>T (p.Ile61=) rs140901774 0.00155
NM_030578.4(B9D2):c.88+17G>C rs371803094 0.00033
NM_030578.4(B9D2):c.336G>A (p.Thr112=) rs139072904 0.00027
NM_030578.4(B9D2):c.513C>T (p.Tyr171=) rs143680317 0.00025
NM_030578.4(B9D2):c.151A>C (p.Ile51Leu) rs368393895 0.00024
NM_030578.4(B9D2):c.150G>C (p.Gln50His) rs747988749 0.00014
NM_030578.4(B9D2):c.224G>A (p.Arg75Gln) rs148087680 0.00014
NM_030578.4(B9D2):c.131C>T (p.Thr44Met) rs150023579 0.00007
NM_030578.4(B9D2):c.89-15C>T rs371483684 0.00005
NM_030578.4(B9D2):c.309G>A (p.Pro103=) rs201735642 0.00004
NM_030578.4(B9D2):c.495C>T (p.Leu165=) rs542445852 0.00004
NM_030578.4(B9D2):c.262C>T (p.Arg88Cys) rs781608263 0.00003
NM_030578.4(B9D2):c.263G>A (p.Arg88His) rs748803301 0.00003
NM_030578.4(B9D2):c.374G>A (p.Arg125Gln) rs1054797 0.00003
NM_030578.4(B9D2):c.484G>T (p.Gly162Cys) rs760322583 0.00003
NM_030578.4(B9D2):c.516C>T (p.Gly172=) rs141578342 0.00003
NM_030578.4(B9D2):c.132G>A (p.Thr44=) rs774854310 0.00001
NM_030578.4(B9D2):c.307C>T (p.Pro103Ser) rs1320885309 0.00001
NM_030578.4(B9D2):c.432C>T (p.Ala144=) rs778128085 0.00001
NM_030578.4(B9D2):c.508C>T (p.Arg170Cys) rs371315485 0.00001
NM_030578.4(B9D2):c.115G>A (p.Val39Met) rs761158280
NM_030578.4(B9D2):c.156_163del (p.Asp53fs) rs786204189
NM_030578.4(B9D2):c.157G>T (p.Asp53Tyr) rs746928334
NM_030578.4(B9D2):c.163_164delinsAA (p.Ala55Asn) rs1555756363
NM_030578.4(B9D2):c.186C>T (p.Asp62=) rs1469483071
NM_030578.4(B9D2):c.223C>G (p.Arg75Gly)
NM_030578.4(B9D2):c.238G>A (p.Val80Met) rs760432560
NM_030578.4(B9D2):c.346C>T (p.Leu116=) rs1555755825
NM_030578.4(B9D2):c.387T>C (p.Gly129=)
NM_030578.4(B9D2):c.484G>A (p.Gly162Ser) rs760322583
NM_030578.4(B9D2):c.508C>G (p.Arg170Gly) rs371315485
NM_030578.4(B9D2):c.509G>A (p.Arg170His) rs770180138
NM_030578.4(B9D2):c.90G>A (p.Gly30=)

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