ClinVar Miner

List of variants in gene IMPDH1 studied for Retinitis pigmentosa

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Total variants: 66
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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 0.14221
NM_000883.4(IMPDH1):c.*228G>A rs72624976 0.01836
NM_000883.4(IMPDH1):c.*634C>T rs1803822 0.01779
NM_000883.4(IMPDH1):c.*597G>A rs1803821 0.01620
NM_000883.4(IMPDH1):c.*276C>T rs72624977 0.00426
NM_000883.4(IMPDH1):c.1074+6G>T rs61751224 0.00239
NM_000883.4(IMPDH1):c.1074+7C>T rs72624958 0.00237
NM_000883.4(IMPDH1):c.1338C>T (p.Ile446=) rs199623010 0.00232
NM_000883.4(IMPDH1):c.1142A>G (p.His381Arg) rs61751223 0.00214
NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr) rs72624961 0.00179
NM_000883.4(IMPDH1):c.*613T>C rs11549800 0.00117
NM_000883.4(IMPDH1):c.*196C>T rs72624974 0.00106
NM_000883.4(IMPDH1):c.336C>T (p.Ala112=) rs547740249 0.00095
NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg) rs144498273 0.00088
NM_000883.4(IMPDH1):c.189A>G (p.Ser63=) rs143796089 0.00063
NM_000883.4(IMPDH1):c.*137G>C rs72624973 0.00050
NM_000883.4(IMPDH1):c.1405+9A>G rs11562030 0.00050
NM_000883.4(IMPDH1):c.*102G>T rs541712803 0.00043
NM_000883.4(IMPDH1):c.769A>G (p.Thr257Ala) rs144659635 0.00040
NM_000883.4(IMPDH1):c.888C>T (p.Ile296=) rs72624957 0.00031
NM_000883.4(IMPDH1):c.*642G>A rs574318258 0.00025
NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln) rs150628823 0.00025
NM_000883.4(IMPDH1):c.*231C>G rs1042267 0.00024
NM_000883.4(IMPDH1):c.1653C>T (p.His551=) rs147882304 0.00019
NM_000883.4(IMPDH1):c.1668C>T (p.Ile556=) rs201803921 0.00019
NM_000883.4(IMPDH1):c.*410G>A rs530960760 0.00018
NM_000883.4(IMPDH1):c.841G>C (p.Glu281Gln) rs145014241 0.00018
NM_000883.4(IMPDH1):c.1226G>A (p.Gly409Asp) rs375914533 0.00017
NM_000883.4(IMPDH1):c.930C>T (p.Thr310=) rs150531977 0.00013
NM_000883.4(IMPDH1):c.1662G>A (p.Gln554=) rs139785999 0.00011
NM_000883.4(IMPDH1):c.*544G>A rs142941122 0.00010
NM_000883.4(IMPDH1):c.675T>C (p.Ser225=) rs373353058 0.00009
NM_000883.4(IMPDH1):c.443C>T (p.Thr148Met) rs150278198 0.00006
NM_000883.4(IMPDH1):c.1280C>T (p.Pro427Leu) rs763999626 0.00005
NM_000883.4(IMPDH1):c.1350C>T (p.Gly450=) rs780213373 0.00005
NM_000883.4(IMPDH1):c.*259G>A rs535964010 0.00004
NM_000883.4(IMPDH1):c.*321G>T rs571536404 0.00003
NM_000883.4(IMPDH1):c.561C>T (p.Asn187=) rs1042250 0.00003
NM_000883.4(IMPDH1):c.*321G>A rs571536404 0.00002
NM_000883.4(IMPDH1):c.1589G>A (p.Gly530Asp) rs756992593 0.00002
NM_000883.4(IMPDH1):c.255-2A>G rs1238921380 0.00002
NM_000883.4(IMPDH1):c.737G>A (p.Arg246Gln) rs201071873 0.00002
NM_000883.4(IMPDH1):c.*258C>T rs886061981 0.00001
NM_000883.4(IMPDH1):c.*631C>T rs760544024 0.00001
NM_000883.4(IMPDH1):c.1433C>T (p.Thr478Ile) rs564132747 0.00001
NM_000883.4(IMPDH1):c.255-10C>T rs1478038443 0.00001
NM_000883.4(IMPDH1):c.694A>G (p.Thr232Ala) rs979315605 0.00001
NM_000883.4(IMPDH1):c.*105T>A rs886061983
NM_000883.4(IMPDH1):c.*130A>G rs1797626715
NM_000883.4(IMPDH1):c.*168G>A rs531478376
NM_000883.4(IMPDH1):c.*202C>T rs886061982
NM_000883.4(IMPDH1):c.*223C>A rs543042380
NM_000883.4(IMPDH1):c.*223C>G rs543042380
NM_000883.4(IMPDH1):c.*223C>T rs543042380
NM_000883.4(IMPDH1):c.*256T>C rs752294619
NM_000883.4(IMPDH1):c.1075-3C>T rs1797968829
NM_000883.4(IMPDH1):c.1573G>T (p.Ala525Ser) rs367951647
NM_000883.4(IMPDH1):c.1695-11C>T rs1797754885
NM_000883.4(IMPDH1):c.1704G>A (p.Met568Ile) rs886061984
NM_000883.4(IMPDH1):c.402+1G>T rs1562998089
NM_000883.4(IMPDH1):c.424C>T (p.Arg142Trp) rs376769056
NM_000883.4(IMPDH1):c.795G>A (p.Thr265=) rs757423102
NM_000883.4(IMPDH1):c.928A>C (p.Thr310Pro) rs1057518949
NM_000883.4(IMPDH1):c.959T>C (p.Leu320Pro) rs1584728115
NM_000883.4(IMPDH1):c.962C>T (p.Ala321Val) rs1584728088

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