ClinVar Miner

List of variants in gene B9D1 reported as likely benign for Meckel syndrome

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_015681.6(B9D1):c.580T>C (p.Leu194=) rs7212549 0.01478
NM_015681.6(B9D1):c.181C>T (p.Arg61Trp) rs73980038 0.01073
NM_015681.6(B9D1):c.568A>T (p.Thr190Ser) rs147684440 0.00104
NM_015681.6(B9D1):c.567T>C (p.Asp189=) rs776039881 0.00049
NM_015681.6(B9D1):c.360C>T (p.Pro120=) rs139682891 0.00025
NM_015681.6(B9D1):c.376T>A (p.Ser126Thr) rs201299216 0.00022
NM_015681.6(B9D1):c.369C>A (p.Val123=) rs138240520 0.00021
NM_015681.6(B9D1):c.479G>A (p.Arg160His) rs538949071 0.00011
NM_015681.6(B9D1):c.381G>A (p.Thr127=) rs755165652 0.00003
NM_015681.6(B9D1):c.108C>T (p.Tyr36=) rs548122561 0.00002
NM_015681.6(B9D1):c.315C>T (p.Ala105=) rs776662206 0.00001
NM_015681.6(B9D1):c.321C>T (p.His107=) rs377672945 0.00001
NM_015681.6(B9D1):c.342-12C>T rs1365103687 0.00001
NM_015681.6(B9D1):c.472+16C>G rs375227607 0.00001
NM_015681.6(B9D1):c.64-4T>C rs749948329 0.00001
NM_015681.6(B9D1):c.99C>T (p.Cys33=) rs1910884202 0.00001
NM_015681.6(B9D1):c.105G>A (p.Val35=)
NM_015681.6(B9D1):c.132+11C>T rs2152276135
NM_015681.6(B9D1):c.132+14T>C
NM_015681.6(B9D1):c.162A>C (p.Thr54=)
NM_015681.6(B9D1):c.165C>T (p.Ser55=) rs368753881
NM_015681.6(B9D1):c.189A>G (p.Ala63=)
NM_015681.6(B9D1):c.204C>T (p.Phe68=) rs1006221533
NM_015681.6(B9D1):c.216C>G (p.Val72=)
NM_015681.6(B9D1):c.240C>T (p.Tyr80=)
NM_015681.6(B9D1):c.244+10dup rs1340872247
NM_015681.6(B9D1):c.244+17C>T
NM_015681.6(B9D1):c.244+19T>G
NM_015681.6(B9D1):c.245-12del
NM_015681.6(B9D1):c.245-20C>T
NM_015681.6(B9D1):c.245-9C>T
NM_015681.6(B9D1):c.255C>T (p.Ile85=)
NM_015681.6(B9D1):c.261C>G (p.Leu87=)
NM_015681.6(B9D1):c.261C>T (p.Leu87=)
NM_015681.6(B9D1):c.264C>T (p.Ser88=)
NM_015681.6(B9D1):c.276A>C (p.Pro92=)
NM_015681.6(B9D1):c.285C>T (p.Phe95=)
NM_015681.6(B9D1):c.288G>A (p.Gly96=)
NM_015681.6(B9D1):c.303A>T (p.Arg101=) rs1555607998
NM_015681.6(B9D1):c.312G>A (p.Gly104=) rs2152261896
NM_015681.6(B9D1):c.333A>T (p.Ser111=)
NM_015681.6(B9D1):c.341+15T>C
NM_015681.6(B9D1):c.341+19C>T
NM_015681.6(B9D1):c.342-9T>C
NM_015681.6(B9D1):c.404+10G>A
NM_015681.6(B9D1):c.404+11T>C
NM_015681.6(B9D1):c.405-13_405-11del rs748543760
NM_015681.6(B9D1):c.405-19T>C
NM_015681.6(B9D1):c.405-9T>C
NM_015681.6(B9D1):c.426C>T (p.Pro142=)
NM_015681.6(B9D1):c.465C>A (p.Gly155=) rs748971385
NM_015681.6(B9D1):c.472+13C>G rs2152253339
NM_015681.6(B9D1):c.472+15C>G
NM_015681.6(B9D1):c.472+16C>T rs375227607
NM_015681.6(B9D1):c.473-12T>C rs1330715883
NM_015681.6(B9D1):c.473-13del
NM_015681.6(B9D1):c.473-15C>G
NM_015681.6(B9D1):c.480T>G (p.Arg160=)
NM_015681.6(B9D1):c.510C>G (p.Leu170=)
NM_015681.6(B9D1):c.510C>T (p.Leu170=)
NM_015681.6(B9D1):c.579G>C (p.Val193=)
NM_015681.6(B9D1):c.64-12_64-11del
NM_015681.6(B9D1):c.64-15_64-12del
NM_015681.6(B9D1):c.64-19_64-18del rs2152276295
NM_015681.6(B9D1):c.64-5T>C rs1910896502
NM_015681.6(B9D1):c.64-6T>C
NM_015681.6(B9D1):c.96C>T (p.Tyr32=) rs2152276201

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