ClinVar Miner

List of variants in gene B9D2 studied for Meckel syndrome

Included ClinVar conditions (40):
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Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_030578.4(B9D2):c.-5+107G>A rs2241712 0.71256
NM_030578.4(B9D2):c.33A>G (p.Ile11Met) rs2241714 0.71244
NM_030578.4(B9D2):c.214+25T>G rs11668109 0.66244
NM_030578.4(B9D2):c.-4-40C>G rs2241713 0.59207
NM_030578.4(B9D2):c.*18G>A rs1800468 0.05927
NM_030578.4(B9D2):c.215-16C>G rs3087453 0.01363
NM_030578.4(B9D2):c.195C>T (p.Phe65=) rs34088631 0.00261
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.336G>A (p.Thr112=) rs139072904 0.00027
NM_030578.4(B9D2):c.151A>C (p.Ile51Leu) rs368393895 0.00024
NM_030578.4(B9D2):c.224G>A (p.Arg75Gln) rs148087680 0.00016
NM_030578.4(B9D2):c.150G>C (p.Gln50His) rs747988749 0.00014
NM_030578.4(B9D2):c.513C>T (p.Tyr171=) rs143680317 0.00014
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.496C>T (p.Arg166Cys) rs749611100 0.00004
NM_030578.4(B9D2):c.89-15C>T rs371483684 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 0.00002
NM_030578.4(B9D2):c.301A>C (p.Ser101Arg) rs1487082103 0.00001
NM_030578.4(B9D2):c.-4-60_-4-59insT rs3217387
NM_030578.4(B9D2):c.115G>A (p.Val39Met) rs761158280
NM_030578.4(B9D2):c.131C>T (p.Thr44Met)
NM_030578.4(B9D2):c.132G>A (p.Thr44=)
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.15C>A (p.His5Gln) rs1388769907
NM_030578.4(B9D2):c.163_164delinsAA (p.Ala55Asn) rs1555756363
NM_030578.4(B9D2):c.168C>G (p.Tyr56Ter) rs1568484575
NM_030578.4(B9D2):c.186C>T (p.Asp62=)
NM_030578.4(B9D2):c.238G>A (p.Val80Met) rs760432560
NM_030578.4(B9D2):c.307C>T (p.Pro103Ser)
NM_030578.4(B9D2):c.346C>T (p.Leu116=) rs1555755825
NM_030578.4(B9D2):c.432C>T (p.Ala144=)
NM_030578.4(B9D2):c.484G>A (p.Gly162Ser)
NM_030578.4(B9D2):c.496C>G (p.Arg166Gly)
NM_030578.4(B9D2):c.508C>G (p.Arg170Gly) rs371315485
NM_030578.4(B9D2):c.508C>T (p.Arg170Cys)
NM_030578.4(B9D2):c.509G>A (p.Arg170His)
NM_030578.4(B9D2):c.516C>T (p.Gly172=)
NM_030578.4(B9D2):c.88+17G>C

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