ClinVar Miner

List of variants in gene IFIH1 studied for Moyamoya syndrome

Included ClinVar conditions (50):
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Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP
NC_000002.12:g.(?_162288115)_(162288375_?)del
NC_000002.12:g.162277662_162277672delAACACGTTCTT
NM_022168.3(IFIH1):c.177T>C (p.Val59=) rs115500208
NM_022168.3(IFIH1):c.2020_2023delAGAT (p.Arg674Phefs) rs569337014
NM_022168.3(IFIH1):c.230G>A (p.Arg77Gln) rs367851471
NM_022168.3(IFIH1):c.258C>G (p.Thr86=) rs143870870
NM_022168.3(IFIH1):c.418G>A (p.Glu140Lys) rs766508793
NM_022168.3(IFIH1):c.436A>G (p.Ile146Val) rs146721166
NM_022168.3(IFIH1):c.445A>G (p.Arg149Gly) rs74162074
NM_022168.4(IFIH1):c.1009A>G (p.Arg337Gly) rs587777447
NM_022168.4(IFIH1):c.1046A>G (p.Lys349Arg) rs72650664
NM_022168.4(IFIH1):c.1063G>A (p.Glu355Lys)
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr) rs150317197
NM_022168.4(IFIH1):c.1095+1G>T rs140125523
NM_022168.4(IFIH1):c.1097T>A (p.Val366Glu) rs140977021
NM_022168.4(IFIH1):c.1114C>T (p.Leu372Phe) rs587777576
NM_022168.4(IFIH1):c.1121G>A (p.Arg374His) rs145520044
NM_022168.4(IFIH1):c.1166G>A (p.Gly389Glu) rs765985079
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val) rs587777449
NM_022168.4(IFIH1):c.1243C>A (p.Gln415Lys) rs575678322
NM_022168.4(IFIH1):c.1312T>C (p.Ser438Pro) rs139714761
NM_022168.4(IFIH1):c.1354G>A (p.Ala452Thr) rs587777575
NM_022168.4(IFIH1):c.1483G>A (p.Gly495Arg) rs672601336
NM_022168.4(IFIH1):c.1517T>A (p.Ile506Asn) rs1320095792
NM_022168.4(IFIH1):c.1583T>G (p.Leu528Arg) rs142348767
NM_022168.4(IFIH1):c.1641+1G>C rs35337543
NM_022168.4(IFIH1):c.1701G>A (p.Met567Ile)
NM_022168.4(IFIH1):c.1704del (p.Pro569Glnfs)
NM_022168.4(IFIH1):c.1738C>T (p.Gln580Ter)
NM_022168.4(IFIH1):c.1764dup (p.Ala589Serfs) rs553669430
NM_022168.4(IFIH1):c.1793G>A (p.Arg598His) rs200945986
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605
NM_022168.4(IFIH1):c.1886T>C (p.Phe629Ser) rs200980825
NM_022168.4(IFIH1):c.1965T>A (p.Asp655Glu) rs144274375
NM_022168.4(IFIH1):c.1996C>T (p.Pro666Ser)
NM_022168.4(IFIH1):c.2016del (p.Asp673Ilefs)
NM_022168.4(IFIH1):c.2044+2T>C rs201026962
NM_022168.4(IFIH1):c.2105C>T (p.Thr702Ile) rs72650663
NM_022168.4(IFIH1):c.2122A>G (p.Ile708Val) rs370796923
NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln) rs587777445
NM_022168.4(IFIH1):c.2196T>C (p.Tyr732=) rs147175706
NM_022168.4(IFIH1):c.2335C>T (p.Arg779Cys) rs587777448
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_022168.4(IFIH1):c.2361C>T (p.Ile787=) rs35677292
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr) rs148369169
NM_022168.4(IFIH1):c.2439A>T (p.Glu813Asp)
NM_022168.4(IFIH1):c.2454+6T>C rs6748554
NM_022168.4(IFIH1):c.2455-7T>A rs41399348
NM_022168.4(IFIH1):c.2456C>A (p.Ala819Asp)
NM_022168.4(IFIH1):c.2459G>A (p.Arg820His) rs74162087
NM_022168.4(IFIH1):c.2459G>C (p.Arg820Pro)
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) rs376048533
NM_022168.4(IFIH1):c.2469C>T (p.Ala823=) rs13418718
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys) rs79324540
NM_022168.4(IFIH1):c.2597C>T (p.Pro866Leu) rs200833729
NM_022168.4(IFIH1):c.2733T>C (p.Ser911=)
NM_022168.4(IFIH1):c.2767A>G (p.Ile923Val) rs35667974
NM_022168.4(IFIH1):c.2784C>T (p.His928=) rs145187664
NM_022168.4(IFIH1):c.2785G>A (p.Val929Ile) rs140562355
NM_022168.4(IFIH1):c.2788A>C (p.Asn930His)
NM_022168.4(IFIH1):c.2807+1G>A rs35732034
NM_022168.4(IFIH1):c.2893G>A (p.Gly965Ser)
NM_022168.4(IFIH1):c.2920C>T (p.His974Tyr)
NM_022168.4(IFIH1):c.2936T>G (p.Leu979Trp) rs1553696482
NM_022168.4(IFIH1):c.2937G>A (p.Leu979=) rs372007025
NM_022168.4(IFIH1):c.2946C>T (p.Leu982=) rs74162089
NM_022168.4(IFIH1):c.2962G>A (p.Val988Ile)
NM_022168.4(IFIH1):c.317C>T (p.Ser106Leu)
NM_022168.4(IFIH1):c.454-1G>T rs148590996
NM_022168.4(IFIH1):c.457G>T (p.Ala153Ser)
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp)
NM_022168.4(IFIH1):c.580G>C (p.Val194Leu) rs1553461143
NM_022168.4(IFIH1):c.584A>G (p.Gln195Arg)
NM_022168.4(IFIH1):c.716dup (p.Met240Hisfs)
NM_022168.4(IFIH1):c.760G>A (p.Val254Ile) rs1256109895
NM_022168.4(IFIH1):c.986T>C (p.Leu329Pro)

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