ClinVar Miner

List of variants in gene TNPO3 studied for not specified

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_012470.4(TNPO3):c.2661C>T (p.Ala887=) rs8043 0.49045
NM_012470.4(TNPO3):c.759C>G (p.Leu253=) rs2305324 0.35727
NM_012470.4(TNPO3):c.2062-12T>G rs112438598 0.06913
NM_012470.4(TNPO3):c.2358G>A (p.Leu786=) rs11538884 0.04242
NM_012470.4(TNPO3):c.2205C>T (p.Leu735=) rs2293493 0.03941
NM_012470.4(TNPO3):c.321+16C>T rs17424179 0.02517
NM_012470.4(TNPO3):c.2154G>T (p.Arg718=) rs35060568 0.01445
NM_012470.4(TNPO3):c.2273+16G>A rs116108543 0.00200
NM_012470.4(TNPO3):c.2652C>T (p.Thr884=) rs149434536 0.00140
NM_012470.4(TNPO3):c.2280T>C (p.Ile760=) rs142359170 0.00093
NM_012470.4(TNPO3):c.120+9C>A rs372906002 0.00048
NM_012470.4(TNPO3):c.582T>C (p.Asp194=) rs148885407 0.00041
NM_012470.4(TNPO3):c.2061+18G>A rs376309645 0.00026
NM_012470.4(TNPO3):c.2431-6A>C rs190759031 0.00005
NM_012470.4(TNPO3):c.738G>A (p.Ser246=) rs779514660 0.00004
NM_012470.4(TNPO3):c.1011+20A>G rs199605219 0.00003
NM_012470.4(TNPO3):c.1158+17A>G rs764995047 0.00003
NM_012470.4(TNPO3):c.2385C>T (p.Val795=) rs1057064473 0.00002
NM_012470.4(TNPO3):c.2542del (p.Tyr848fs) rs773574448 0.00002
NM_012470.4(TNPO3):c.1209A>G (p.Val403=) rs754874514 0.00001
NM_012470.4(TNPO3):c.1899G>A (p.Pro633=) rs747905488 0.00001
NM_012470.4(TNPO3):c.2061+17C>T rs190490751 0.00001
NM_012470.4(TNPO3):c.2256G>T (p.Leu752=) rs1351482070 0.00001
NM_012470.4(TNPO3):c.2768G>A (p.Arg923Gln) rs750548861 0.00001
NM_012470.4(TNPO3):c.873-3C>T rs780935123 0.00001
NM_012470.4(TNPO3):c.1165G>A (p.Val389Ile)
NM_012470.4(TNPO3):c.140C>G (p.Ser47Ter)
NM_012470.4(TNPO3):c.148T>C (p.Leu50=) rs1057523314
NM_012470.4(TNPO3):c.1616A>G (p.Asn539Ser)
NM_012470.4(TNPO3):c.1782+2dup rs1085307475
NM_012470.4(TNPO3):c.2061+17C>A rs190490751
NM_012470.4(TNPO3):c.2274-10del rs539653012
NM_012470.4(TNPO3):c.2406C>G (p.Leu802=) rs1554435539
NM_012470.4(TNPO3):c.2516A>C (p.His839Pro)
NM_012470.4(TNPO3):c.2655G>A (p.Val885=) rs548382251
NM_012470.4(TNPO3):c.321+1G>T
NM_012470.4(TNPO3):c.322-16A>G rs768458902

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