ClinVar Miner

List of variants in gene IMPDH1 reported by Dept Of Ophthalmology, Nagoya University

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000883.4(IMPDH1):c.1575G>A (p.Ala525=) rs2228075 0.26135
NM_000883.4(IMPDH1):c.987G>C (p.Leu329=) rs2288550 0.13918
NM_000883.4(IMPDH1):c.1489C>T (p.Arg497Trp) rs72624967 0.00147
NM_000883.4(IMPDH1):c.568C>T (p.Arg190Trp) rs121912553 0.00038
NM_000883.4(IMPDH1):c.930C>T (p.Thr310=) rs150531977 0.00013
NM_000883.4(IMPDH1):c.1436C>T (p.Thr479Met) rs201001000 0.00003
NM_000883.4(IMPDH1):c.1743G>A (p.Ser581=) rs765536215 0.00003
NM_000883.4(IMPDH1):c.1449C>T (p.Gly483=) rs987570514 0.00002
NM_000883.4(IMPDH1):c.195A>G (p.Leu65=) rs753636717 0.00002
NM_000883.4(IMPDH1):c.1031G>A (p.Arg344His) rs1238910577 0.00001
NM_000883.4(IMPDH1):c.1056C>T (p.Gly352=) rs779143637 0.00001
NM_000883.4(IMPDH1):c.1782C>T (p.Tyr594=) rs368622318 0.00001
NM_000883.4(IMPDH1):c.354C>T (p.Asn118=) rs1798504836 0.00001
NM_000883.4(IMPDH1):c.799A>G (p.Arg267Gly) rs751763023 0.00001
NM_000883.4(IMPDH1):c.1048C>A (p.Gln350Lys)
NM_000883.4(IMPDH1):c.1175C>T (p.Ala392Val)
NM_000883.4(IMPDH1):c.1242C>T (p.Ser414=)
NM_000883.4(IMPDH1):c.1296_1297del (p.Tyr433fs)
NM_000883.4(IMPDH1):c.1299C>A (p.Tyr433Ter)
NM_000883.4(IMPDH1):c.1433C>G (p.Thr478Ser) rs564132747
NM_000883.4(IMPDH1):c.1435A>G (p.Thr479Ala)
NM_000883.4(IMPDH1):c.1474C>T (p.Arg492Trp)
NM_000883.4(IMPDH1):c.1650A>G (p.Gln550=)
NM_000883.4(IMPDH1):c.1779-1G>T
NM_000883.4(IMPDH1):c.192del (p.Glu64fs)
NM_000883.4(IMPDH1):c.297C>G (p.Pro99=)
NM_000883.4(IMPDH1):c.659T>A (p.Met220Lys)
NM_000883.4(IMPDH1):c.809T>G (p.Leu270Arg)
NM_000883.4(IMPDH1):c.810G>T (p.Leu270=)
NM_000883.4(IMPDH1):c.826G>T (p.Gly276Cys)
NM_000883.4(IMPDH1):c.848A>G (p.Asn283Ser)
NM_000883.4(IMPDH1):c.868A>G (p.Lys290Glu)
NM_000883.4(IMPDH1):c.870G>A (p.Lys290=)
NM_000883.4(IMPDH1):c.925C>G (p.Arg309Gly)
NM_000883.4(IMPDH1):c.926G>C (p.Arg309Pro) rs121912552
NM_000883.4(IMPDH1):c.931G>A (p.Asp311Asn) rs121912550
NM_000883.4(IMPDH1):c.967A>G (p.Lys323Glu) rs1562989913

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