ClinVar Miner

List of variants in gene combination SARM1, SLC46A1 reported as uncertain significance for Congenital defect of folate absorption

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Gene type:
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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_015077.4(SARM1):c.1924-978del rs559270240 0.00232
NM_015077.4(SARM1):c.*1575G>A rs200529579 0.00177
NM_015077.4(SARM1):c.*646C>G rs139343092 0.00170
NM_015077.4(SARM1):c.1924-910C>T rs575926704 0.00163
NM_015077.4(SARM1):c.1924-885G>A rs886052737 0.00128
NM_015077.4(SARM1):c.*1539G>T rs41297915 0.00109
NM_015077.4(SARM1):c.*1531C>T rs41297917 0.00101
NM_015077.4(SARM1):c.*1389G>C rs41297919 0.00099
NM_015077.4(SARM1):c.*2535T>C rs181698246 0.00080
NM_015077.4(SARM1):c.*1721T>C rs779490495 0.00064
NM_015077.4(SARM1):c.*812G>A rs750056802 0.00037
NM_015077.4(SARM1):c.1924-667G>A rs184621509 0.00034
NM_015077.4(SARM1):c.*1108C>T rs782425144 0.00023
NM_015077.4(SARM1):c.1924-320C>T rs908290461 0.00019
NM_015077.4(SARM1):c.2156C>T (p.Ala719Val) rs146812537 0.00019
NM_015077.4(SARM1):c.1924-340G>T rs1046966571 0.00017
NM_015077.4(SARM1):c.*235T>C rs762983414 0.00013
NM_015077.4(SARM1):c.*734G>T rs782382359 0.00012
NM_015077.4(SARM1):c.*2121C>T rs781824816 0.00011
NM_015077.4(SARM1):c.*502C>T rs1028128966 0.00011
NM_015077.4(SARM1):c.1924-1053A>T rs781937251 0.00011
NM_015077.4(SARM1):c.1924-208G>C rs886052738 0.00010
NM_015077.4(SARM1):c.1924-572G>C rs561043242 0.00009
NM_015077.4(SARM1):c.1924-234T>A rs1031838882 0.00008
NM_015077.4(SARM1):c.*91G>A rs539239937 0.00007
NM_015077.4(SARM1):c.*2308C>T rs535633260 0.00006
NM_015077.4(SARM1):c.*2585A>C rs886052750 0.00006
NM_015077.4(SARM1):c.*2894C>T rs893997849 0.00006
NM_015077.4(SARM1):c.*3359G>A rs782615925 0.00006
NM_015077.4(SARM1):c.*3019G>A rs1207587504 0.00004
NM_015077.4(SARM1):c.*3073G>A rs1386304942 0.00004
NM_015077.4(SARM1):c.*1097T>C rs542078425 0.00003
NM_015077.4(SARM1):c.*2034C>T rs1435694827 0.00003
NM_015077.4(SARM1):c.*2364T>G rs886052749 0.00003
NM_015077.4(SARM1):c.*3241G>A rs886052752 0.00003
NM_015077.4(SARM1):c.*562C>G rs886052744 0.00003
NM_015077.4(SARM1):c.*877T>C rs886052746 0.00003
NM_080669.6(SLC46A1):c.1258T>C (p.Phe420Leu) rs1337596788 0.00003
NM_015077.4(SARM1):c.*2072C>T rs139970165 0.00002
NM_015077.4(SARM1):c.2014A>G (p.Met672Val) rs782774927 0.00002
NM_015077.4(SARM1):c.*1343G>T rs149579635 0.00001
NM_015077.4(SARM1):c.*1849C>T rs988138947 0.00001
NM_015077.4(SARM1):c.*2150T>C rs886052748 0.00001
NM_015077.4(SARM1):c.1924-38G>T rs886052740 0.00001
NM_015077.4(SARM1):c.1924-407C>T rs1216449496 0.00001
NM_015077.4(SARM1):c.1924-569T>C rs528235797 0.00001
NM_080669.6(SLC46A1):c.1367C>T (p.Pro456Leu) rs886052754 0.00001
NM_015077.4(SARM1):c.*1389G>A rs41297919
NM_015077.4(SARM1):c.*167T>C rs886052743
NM_015077.4(SARM1):c.*1743A>T rs886052747
NM_015077.4(SARM1):c.*1987T>C rs560836860
NM_015077.4(SARM1):c.*2035G>A rs1390797851
NM_015077.4(SARM1):c.*3093T>C rs886052751
NM_015077.4(SARM1):c.*3280C>T rs782079474
NM_015077.4(SARM1):c.*3366C>A rs886052753
NM_015077.4(SARM1):c.*361C>T rs2239910
NM_015077.4(SARM1):c.*425C>T rs1339848912
NM_015077.4(SARM1):c.*469G>A rs2068129559
NM_015077.4(SARM1):c.*68T>C rs886052742
NM_015077.4(SARM1):c.*709C>G rs886052745
NM_015077.4(SARM1):c.*857C>G rs576823032
NM_015077.4(SARM1):c.*884A>G rs537647948
NM_015077.4(SARM1):c.*969C>T rs555975005
NM_015077.4(SARM1):c.1924-162T>A rs886052739
NM_015077.4(SARM1):c.1924-433A>C rs2068108606
NM_015077.4(SARM1):c.1924-874_1924-873dup rs34879232
NM_015077.4(SARM1):c.1924-991T>C rs886052736
NM_015077.4(SARM1):c.1998G>C (p.Gln666His) rs886052741
NM_015077.4(SARM1):c.2045+27G>A rs782370729
NM_015077.4(SARM1):c.2089C>G (p.Arg697Gly) rs372946020
NM_015077.4(SARM1):c.2143T>C (p.Leu715=) rs781986662
NM_080669.6(SLC46A1):c.1334del (p.Lys445fs)

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