ClinVar Miner

List of variants in gene TULP1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_003322.6(TULP1):c.797G>T (p.Gly266Val) rs150480343 0.00111
NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr) rs141980901 0.00107
NM_003322.6(TULP1):c.1333G>A (p.Gly445Ser) rs181172036 0.00012
NM_003322.6(TULP1):c.296A>G (p.Lys99Arg) rs145518705 0.00006
NM_003322.6(TULP1):c.971A>C (p.Tyr324Ser) rs749776323 0.00001
NM_003322.6(TULP1):c.1526T>C (p.Val509Ala) rs1581734804
NM_003322.6(TULP1):c.849_852dup (p.Pro285fs) rs1581740726

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