ClinVar Miner

List of variants in gene B9D1 reported as uncertain significance for Meckel syndrome

Included ClinVar conditions (40):
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Gene type:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
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.*47C>T rs200124070 0.00023
NM_015681.6(B9D1):c.376T>A (p.Ser126Thr) rs201299216 0.00022
NM_015681.6(B9D1):c.151T>C (p.Ser51Pro) rs546359789 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.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.421C>T (p.Arg141Trp) rs752121172 0.00003
NM_015681.6(B9D1):c.603C>A (p.Ser201Arg) rs547869203 0.00003
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.316G>A (p.Val106Met) rs770853834 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.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.90C>T (p.Cys30=) rs886052685 0.00001
NC_000017.10:g.(?_19263613)_(19265882_?)dup
NM_015681.6(B9D1):c.103G>A (p.Val35Met) rs2152276184
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.182G>A (p.Arg61Gln)
NM_015681.6(B9D1):c.204C>A (p.Phe68Leu) 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.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.271G>A (p.Gly91Arg) rs1238280587
NM_015681.6(B9D1):c.285C>A (p.Phe95Leu) rs373478202
NM_015681.6(B9D1):c.285C>G (p.Phe95Leu)
NM_015681.6(B9D1):c.286G>A (p.Gly96Arg)
NM_015681.6(B9D1):c.302G>A (p.Arg101Gln)
NM_015681.6(B9D1):c.342-10T>C rs1908966319
NM_015681.6(B9D1):c.342-1_344dup rs2152260983
NM_015681.6(B9D1):c.344A>G (p.His115Arg) rs748742792
NM_015681.6(B9D1):c.358C>G (p.Pro120Ala)
NM_015681.6(B9D1):c.415G>T (p.Gly139Trp)
NM_015681.6(B9D1):c.419G>A (p.Arg140Gln)
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.478C>A (p.Arg160Ser) rs182767811
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.548A>G (p.Tyr183Cys)
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.77A>C (p.Asp26Ala)
NM_015681.6(B9D1):c.83T>C (p.Leu28Pro)

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