ClinVar Miner

List of variants in gene GDI1 reported by Ambry Genetics

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Total variants: 21
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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.909C>T (p.Ile303=) rs142583308 0.00032
NM_001493.3(GDI1):c.1167C>T (p.Pro389=) rs140855833 0.00022
NM_001493.3(GDI1):c.383C>G (p.Ala128Gly) rs369835365 0.00017
NM_001493.3(GDI1):c.1212C>T (p.Tyr404=) rs145910134 0.00004
NM_001493.3(GDI1):c.412C>T (p.Arg138Trp) rs1375956716 0.00001
NM_001493.3(GDI1):c.588C>T (p.Asp196=) rs2276462 0.00001
NM_001493.3(GDI1):c.1006A>C (p.Met336Leu)
NM_001493.3(GDI1):c.1281G>A (p.Thr427=)
NM_001493.3(GDI1):c.1282G>A (p.Ala428Thr)
NM_001493.3(GDI1):c.1317C>T (p.Asn439=)
NM_001493.3(GDI1):c.254-3C>T
NM_001493.3(GDI1):c.570G>A (p.Ala190=) rs782136459
NM_001493.3(GDI1):c.582T>C (p.Thr194=)
NM_001493.3(GDI1):c.616G>A (p.Val206Ile)
NM_001493.3(GDI1):c.729C>T (p.Ala243=)
NM_001493.3(GDI1):c.819+1G>A rs1557198821
NM_001493.3(GDI1):c.865G>C (p.Asp289His) rs1569553456
NM_001493.3(GDI1):c.882T>C (p.Ala294=)

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