ClinVar Miner

List of variants in gene GFM1 reported by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_024996.7(GFM1):c.*226C>T rs1047366 0.58206
NM_024996.7(GFM1):c.643G>A (p.Val215Ile) rs2303909 0.58201
NM_024996.7(GFM1):c.18T>C (p.Ala6=) rs1864507 0.58169
NM_024996.7(GFM1):c.*6C>T rs1047355 0.42265
NM_024996.7(GFM1):c.*691T>A rs8650 0.41638
NM_024996.7(GFM1):c.-33C>T rs28372852 0.17657
NM_024996.7(GFM1):c.*713C>T rs16829307 0.02430
NM_024996.7(GFM1):c.*483_*484insTA rs10662631 0.01750
NM_024996.7(GFM1):c.-11C>T rs112860155 0.01649
NM_024996.7(GFM1):c.1990G>A (p.Val664Ile) rs62288347 0.01464
NM_024996.7(GFM1):c.476A>G (p.Asn159Ser) rs34297061 0.01238
NM_024996.7(GFM1):c.1601+9G>C rs77186707 0.01234
NM_024996.7(GFM1):c.1083+6T>G rs142919829 0.00940
NM_024996.7(GFM1):c.1209C>T (p.Ala403=) rs149949638 0.00889
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp) rs35942089 0.00886
NM_024996.7(GFM1):c.-31A>G rs28372853 0.00742
NM_024996.7(GFM1):c.*766G>T rs114751518 0.00689
NM_024996.7(GFM1):c.*539C>T rs75254073 0.00563
NM_024996.7(GFM1):c.568A>C (p.Met190Leu) rs75450876 0.00510
NM_024996.7(GFM1):c.1593C>T (p.Ala531=) rs114754676 0.00399
NM_024996.7(GFM1):c.960A>C (p.Pro320=) rs145970222 0.00196
NM_024996.7(GFM1):c.2190C>T (p.Asp730=) rs149049400 0.00185
NM_024996.7(GFM1):c.*950C>T rs372706819 0.00124
NM_024996.7(GFM1):c.690-5C>G rs201685981 0.00124
NM_024996.7(GFM1):c.*1004T>C rs190120734 0.00117
NM_024996.7(GFM1):c.2070+11T>G rs150000838 0.00100
NM_024996.7(GFM1):c.1343A>G (p.Asp448Gly) rs146951325 0.00080
NM_024996.7(GFM1):c.*731C>T rs189114088 0.00074
NM_024996.7(GFM1):c.1324-15T>A rs375168014 0.00057
NM_024996.7(GFM1):c.235-14G>A rs201304690 0.00053
NM_024996.7(GFM1):c.*116C>T rs115593809 0.00039
NM_024996.7(GFM1):c.-38C>T rs377352238 0.00037
NM_024996.7(GFM1):c.1032C>T (p.Asn344=) rs373952002 0.00036
NM_024996.7(GFM1):c.1494A>G (p.Glu498=) rs149454742 0.00029
NM_024996.7(GFM1):c.1831C>T (p.Leu611=) rs190393538 0.00026
NM_024996.7(GFM1):c.373G>A (p.Val125Met) rs200923387 0.00023
NM_024996.7(GFM1):c.1305C>G (p.Ala435=) rs141368418 0.00021
NM_024996.7(GFM1):c.622G>A (p.Glu208Lys) rs191462023 0.00014
NM_024996.7(GFM1):c.*429C>T rs914802350 0.00012
NM_024996.7(GFM1):c.*1033A>G rs919876624 0.00010
NM_024996.7(GFM1):c.1948A>G (p.Met650Val) rs147847472 0.00008
NM_024996.7(GFM1):c.*164C>A rs924668466 0.00006
NM_024996.7(GFM1):c.*578C>T rs758670778 0.00006
NM_024996.7(GFM1):c.234+12C>T rs372189223 0.00005
NM_024996.7(GFM1):c.596C>T (p.Ala199Val) rs145247687 0.00004
NM_024996.7(GFM1):c.1852A>G (p.Met618Val) rs767798328 0.00003
NM_024996.7(GFM1):c.702A>G (p.Arg234=) rs377418512 0.00003
NM_024996.7(GFM1):c.*119G>A rs886058122 0.00002
NM_024996.7(GFM1):c.77A>G (p.Lys26Arg) rs574200635 0.00002
NM_024996.7(GFM1):c.*559T>C rs886058124 0.00001
NM_024996.7(GFM1):c.1118G>A (p.Ser373Asn) rs1023544297 0.00001
NM_024996.7(GFM1):c.81+5C>T rs886058119 0.00001
NM_024996.7(GFM1):c.897C>T (p.Ser299=) rs763546447 0.00001
NM_024996.7(GFM1):c.987C>A (p.Leu329=) rs531887279 0.00001
NM_024996.7(GFM1):c.*245A>C rs886058123
NM_024996.7(GFM1):c.*454_*456del rs367730845
NM_024996.7(GFM1):c.*572A>G rs1726365121
NM_024996.7(GFM1):c.*635A>T rs1398384267
NM_024996.7(GFM1):c.*803T>C rs1726381360
NM_024996.7(GFM1):c.-66C>G rs564879457
NM_024996.7(GFM1):c.-73C>T rs116614958
NM_024996.7(GFM1):c.-85C>T rs893145449
NM_024996.7(GFM1):c.1083+3A>G rs187690169
NM_024996.7(GFM1):c.1384G>T (p.Asp462Tyr) rs200244667
NM_024996.7(GFM1):c.1385A>G (p.Asp462Gly) rs886058121
NM_024996.7(GFM1):c.1406G>A (p.Gly469Asp) rs750855220
NM_024996.7(GFM1):c.193C>A (p.Arg65=) rs62286651
NM_024996.7(GFM1):c.56C>T (p.Ala19Val) rs567086019
NM_024996.7(GFM1):c.701G>A (p.Arg234Gln) rs1202361363

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