ClinVar Miner

List of variants in gene B9D1 studied for Meckel syndrome

Included ClinVar conditions (40):
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Gene type:
ClinVar version:
Total variants: 149
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HGVS dbSNP gnomAD frequency
NM_015681.6(B9D1):c.472+28C>T rs4924987 0.57381
NM_015681.6(B9D1):c.-70G>A rs2296978 0.02165
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.-110G>A rs117169107 0.00495
NM_015681.6(B9D1):c.237C>G (p.Pro79=) rs149051059 0.00295
NM_015681.6(B9D1):c.568A>T (p.Thr190Ser) rs147684440 0.00104
NM_015681.6(B9D1):c.*58G>A rs534428777 0.00064
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.*47C>T rs200124070 0.00023
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.245-19C>A rs774504181 0.00012
NM_015681.6(B9D1):c.151T>C (p.Ser51Pro) rs546359789 0.00011
NM_015681.6(B9D1):c.479G>A (p.Arg160His) rs538949071 0.00011
NM_015681.6(B9D1):c.485G>A (p.Arg162His) rs142346405 0.00011
NM_015681.6(B9D1):c.516C>T (p.Asn172=) rs149758860 0.00011
NM_015681.6(B9D1):c.341+2T>C rs143149764 0.00009
NM_015681.6(B9D1):c.597C>G (p.Pro199=) rs753785719 0.00007
NM_015681.6(B9D1):c.131C>T (p.Ala44Val) rs149845104 0.00006
NM_015681.6(B9D1):c.584G>T (p.Gly195Val) rs758466581 0.00006
NM_015681.6(B9D1):c.301C>G (p.Arg101Gly) rs752718131 0.00004
NM_015681.6(B9D1):c.469G>A (p.Glu157Lys) rs146272049 0.00004
NM_015681.6(B9D1):c.109G>A (p.Gly37Ser) rs771997194 0.00003
NM_015681.6(B9D1):c.381G>A (p.Thr127=) rs755165652 0.00003
NM_015681.6(B9D1):c.421C>T (p.Arg141Trp) rs752121172 0.00003
NM_015681.6(B9D1):c.603C>A (p.Ser201Arg) rs547869203 0.00003
NM_015681.6(B9D1):c.108C>T (p.Tyr36=) rs548122561 0.00002
NM_015681.6(B9D1):c.256G>A (p.Val86Met) rs776537604 0.00002
NM_015681.6(B9D1):c.380C>T (p.Thr127Met) rs779138882 0.00002
NM_015681.6(B9D1):c.427G>A (p.Glu143Lys) rs1490515097 0.00002
NM_015681.6(B9D1):c.-79C>G rs529182605 0.00001
NM_015681.6(B9D1):c.143A>G (p.Glu48Gly) rs773267624 0.00001
NM_015681.6(B9D1):c.241G>A (p.Gly81Ser) rs766798349 0.00001
NM_015681.6(B9D1):c.253A>T (p.Ile85Phe) rs769608300 0.00001
NM_015681.6(B9D1):c.281T>C (p.Val94Ala) rs1315959511 0.00001
NM_015681.6(B9D1):c.315C>T (p.Ala105=) rs776662206 0.00001
NM_015681.6(B9D1):c.316G>A (p.Val106Met) rs770853834 0.00001
NM_015681.6(B9D1):c.321C>T (p.His107=) rs377672945 0.00001
NM_015681.6(B9D1):c.341G>A (p.Arg114Gln) rs778260923 0.00001
NM_015681.6(B9D1):c.342-12C>T rs1365103687 0.00001
NM_015681.6(B9D1):c.362T>C (p.Met121Thr) rs1177935761 0.00001
NM_015681.6(B9D1):c.404+5G>C rs767244331 0.00001
NM_015681.6(B9D1):c.434C>T (p.Thr145Ile) rs765607415 0.00001
NM_015681.6(B9D1):c.457G>A (p.Gly153Ser) rs372249324 0.00001
NM_015681.6(B9D1):c.467G>A (p.Arg156Gln) rs886038205 0.00001
NM_015681.6(B9D1):c.472+16C>G rs375227607 0.00001
NM_015681.6(B9D1):c.534G>A (p.Met178Ile) rs939940954 0.00001
NM_015681.6(B9D1):c.551A>T (p.Asp184Val) rs1441010335 0.00001
NM_015681.6(B9D1):c.577G>A (p.Val193Met) rs530321513 0.00001
NM_015681.6(B9D1):c.64-4T>C rs749948329 0.00001
NM_015681.6(B9D1):c.90C>T (p.Cys30=) rs886052685 0.00001
NM_015681.6(B9D1):c.99C>T (p.Cys33=) rs1910884202 0.00001
NC_000017.10:g.(?_19263613)_(19265882_?)dup
NM_001321218.2(B9D1):c.*61C>T rs11652712
NM_015681.6(B9D1):c.103G>A (p.Val35Met) rs2152276184
NM_015681.6(B9D1):c.105G>A (p.Val35=)
NM_015681.6(B9D1):c.113A>G (p.Gln38Arg) rs1248771637
NM_015681.6(B9D1):c.124C>A (p.Pro42Thr) rs2152276151
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.182G>A (p.Arg61Gln)
NM_015681.6(B9D1):c.189A>G (p.Ala63=)
NM_015681.6(B9D1):c.204C>A (p.Phe68Leu) rs1006221533
NM_015681.6(B9D1):c.204C>T (p.Phe68=) rs1006221533
NM_015681.6(B9D1):c.208A>G (p.Ile70Val)
NM_015681.6(B9D1):c.209T>C (p.Ile70Thr) rs886039811
NM_015681.6(B9D1):c.216C>G (p.Val72=)
NM_015681.6(B9D1):c.226A>C (p.Ser76Arg) rs2152273843
NM_015681.6(B9D1):c.233A>G (p.Asn78Ser)
NM_015681.6(B9D1):c.234C>A (p.Asn78Lys) rs2152273834
NM_015681.6(B9D1):c.234C>G (p.Asn78Lys) rs2152273834
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.271G>A (p.Gly91Arg) rs1238280587
NM_015681.6(B9D1):c.276A>C (p.Pro92=)
NM_015681.6(B9D1):c.285C>A (p.Phe95Leu) rs373478202
NM_015681.6(B9D1):c.285C>G (p.Phe95Leu)
NM_015681.6(B9D1):c.285C>T (p.Phe95=)
NM_015681.6(B9D1):c.285_341+154del rs1598057395
NM_015681.6(B9D1):c.286G>A (p.Gly96Arg)
NM_015681.6(B9D1):c.288G>A (p.Gly96=)
NM_015681.6(B9D1):c.302G>A (p.Arg101Gln)
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.342-10T>C rs1908966319
NM_015681.6(B9D1):c.342-1G>T
NM_015681.6(B9D1):c.342-1_344dup rs2152260983
NM_015681.6(B9D1):c.342-9T>C
NM_015681.6(B9D1):c.344A>G (p.His115Arg) rs748742792
NM_015681.6(B9D1):c.358C>G (p.Pro120Ala)
NM_015681.6(B9D1):c.391C>T (p.Gln131Ter)
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.415G>T (p.Gly139Trp)
NM_015681.6(B9D1):c.419G>A (p.Arg140Gln)
NM_015681.6(B9D1):c.426C>T (p.Pro142=)
NM_015681.6(B9D1):c.431A>G (p.Tyr144Cys) rs1908317419
NM_015681.6(B9D1):c.445G>A (p.Val149Met)
NM_015681.6(B9D1):c.446TGG[1] (p.Val150del) rs1064796686
NM_015681.6(B9D1):c.455A>G (p.Gln152Arg) rs1456979116
NM_015681.6(B9D1):c.460G>T (p.Glu154Ter)
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.478C>A (p.Arg160Ser) rs182767811
NM_015681.6(B9D1):c.480T>G (p.Arg160=)
NM_015681.6(B9D1):c.493G>C (p.Gly165Arg)
NM_015681.6(B9D1):c.505C>G (p.Leu169Val)
NM_015681.6(B9D1):c.505CTC[1] (p.Leu170del)
NM_015681.6(B9D1):c.510C>G (p.Leu170=)
NM_015681.6(B9D1):c.510C>T (p.Leu170=)
NM_015681.6(B9D1):c.529G>C (p.Asp177His) rs1309922077
NM_015681.6(B9D1):c.548A>G (p.Tyr183Cys)
NM_015681.6(B9D1):c.579G>C (p.Val193=)
NM_015681.6(B9D1):c.602G>A (p.Ser201Asn) rs1310730602
NM_015681.6(B9D1):c.608C>T (p.Pro203Leu)
NM_015681.6(B9D1):c.612G>T (p.Gln204His)
NM_015681.6(B9D1):c.613T>C (p.Ter205Arg) rs201498591
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.77A>C (p.Asp26Ala)
NM_015681.6(B9D1):c.83T>C (p.Leu28Pro)
NM_015681.6(B9D1):c.96C>T (p.Tyr32=) rs2152276201

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