ClinVar Miner

List of variants in gene GFM1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_024996.7(GFM1):c.1083+6T>G rs142919829 0.00940
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp) rs35942089 0.00886
NM_024996.7(GFM1):c.788A>G (p.Gln263Arg) rs115984741 0.00158
NM_024996.7(GFM1):c.690-5C>G rs201685981 0.00124
NM_024996.7(GFM1):c.1343A>G (p.Asp448Gly) rs146951325 0.00080
NM_024996.7(GFM1):c.1032C>T (p.Asn344=) rs373952002 0.00036
NM_024996.7(GFM1):c.1457C>T (p.Thr486Ile) rs199976922 0.00027
NM_024996.7(GFM1):c.88T>G (p.Trp30Gly) rs760733794 0.00006
NM_024996.7(GFM1):c.1311C>T (p.Ser437=) rs199976566 0.00005
NM_024996.7(GFM1):c.1377C>T (p.Asn459=) rs373098153 0.00004
NM_024996.7(GFM1):c.1704A>G (p.Glu568=) rs756847811 0.00003
NM_024996.7(GFM1):c.2008C>T (p.Arg670Ter) rs1402362655 0.00001
NM_024996.7(GFM1):c.1348G>A (p.Val450Ile) rs2473998488
NM_024996.7(GFM1):c.829dup (p.Ser277fs) rs771865940

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