ClinVar Miner

List of variants in gene GDI1 reported by Genetic Services Laboratory, University of Chicago

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001493.3(GDI1):c.219T>C (p.Asn73=) rs4834 0.28474
NM_001493.3(GDI1):c.154-3C>T rs113696246 0.00524
NM_001493.3(GDI1):c.324C>T (p.Ser108=) rs2230286 0.00215
NM_001493.3(GDI1):c.696C>T (p.Gly232=) rs146653767 0.00026
NM_001493.3(GDI1):c.1191+12G>A rs782356686 0.00018
NM_001493.3(GDI1):c.1280C>T (p.Thr427Met) rs138939602 0.00009
NM_001493.3(GDI1):c.1122G>A (p.Glu374=) rs782232197 0.00004
NM_001493.3(GDI1):c.1212C>T (p.Tyr404=) rs145910134 0.00004
NM_001493.3(GDI1):c.936C>T (p.Asn312=) rs782320151 0.00003
NM_001493.3(GDI1):c.804G>T (p.Val268=) rs148818881 0.00002
NM_001493.3(GDI1):c.338G>A (p.Gly113Glu) rs1557198365 0.00001
NM_001493.3(GDI1):c.193T>A (p.Ser65Thr) rs1557198307
NM_001493.3(GDI1):c.587+6G>A rs1557198604
NM_001493.3(GDI1):c.991+7C>T rs202152861

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