ClinVar Miner

List of variants reported as likely benign for Singleton-Merten syndrome 1 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 83
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HGVS dbSNP
NM_022168.4(IFIH1):c.1041A>C (p.Leu347Phe)
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr) rs150317197
NM_022168.4(IFIH1):c.1097T>A (p.Val366Glu) rs140977021
NM_022168.4(IFIH1):c.1121G>A (p.Arg374His) rs145520044
NM_022168.4(IFIH1):c.1134A>G (p.Gln378=)
NM_022168.4(IFIH1):c.1203A>G (p.Pro401=)
NM_022168.4(IFIH1):c.1300T>C (p.Leu434=)
NM_022168.4(IFIH1):c.1302G>A (p.Leu434=) rs1576227064
NM_022168.4(IFIH1):c.1312T>C (p.Ser438Pro) rs139714761
NM_022168.4(IFIH1):c.1368C>T (p.Asn456=)
NM_022168.4(IFIH1):c.1407T>C (p.Asn469=) rs138740030
NM_022168.4(IFIH1):c.1446T>C (p.Pro482=)
NM_022168.4(IFIH1):c.1461A>G (p.Leu487=)
NM_022168.4(IFIH1):c.1516A>G (p.Ile506Val)
NM_022168.4(IFIH1):c.1524+9T>C
NM_022168.4(IFIH1):c.1525-10T>C
NM_022168.4(IFIH1):c.1525-4C>T
NM_022168.4(IFIH1):c.1527A>G (p.Leu509=)
NM_022168.4(IFIH1):c.1572C>T (p.Asn524=)
NM_022168.4(IFIH1):c.1583T>G (p.Leu528Arg) rs142348767
NM_022168.4(IFIH1):c.1641+13T>C
NM_022168.4(IFIH1):c.1642-8A>G rs772580594
NM_022168.4(IFIH1):c.1644T>C (p.Asp548=)
NM_022168.4(IFIH1):c.1692T>C (p.Tyr564=)
NM_022168.4(IFIH1):c.1737A>G (p.Glu579=)
NM_022168.4(IFIH1):c.1765+9G>A
NM_022168.4(IFIH1):c.1766-11dup rs548261817
NM_022168.4(IFIH1):c.1766-9T>C
NM_022168.4(IFIH1):c.1766C>A (p.Ala589Asp) rs145792185
NM_022168.4(IFIH1):c.1932T>C (p.Asp644=)
NM_022168.4(IFIH1):c.1950T>C (p.Asp650=)
NM_022168.4(IFIH1):c.1965T>A (p.Asp655Glu) rs144274375
NM_022168.4(IFIH1):c.1980G>A (p.Glu660=)
NM_022168.4(IFIH1):c.2020_2023del (p.Arg674fs) rs569337014
NM_022168.4(IFIH1):c.2049C>T (p.Asn683=) rs753209427
NM_022168.4(IFIH1):c.2067G>A (p.Arg689=) rs376420466
NM_022168.4(IFIH1):c.2067G>C (p.Arg689Ser) rs376420466
NM_022168.4(IFIH1):c.2067G>T (p.Arg689Ser) rs376420466
NM_022168.4(IFIH1):c.2069T>C (p.Leu690Pro)
NM_022168.4(IFIH1):c.2105C>T (p.Thr702Ile) rs72650663
NM_022168.4(IFIH1):c.2106C>A (p.Thr702=)
NM_022168.4(IFIH1):c.2133A>G (p.Gln711=) rs368922101
NM_022168.4(IFIH1):c.2138C>G (p.Thr713Ser) rs201841403
NM_022168.4(IFIH1):c.2196T>C (p.Tyr732=) rs147175706
NM_022168.4(IFIH1):c.2232T>A (p.Phe744Leu) rs201142986
NM_022168.4(IFIH1):c.2268A>G (p.Gly756=)
NM_022168.4(IFIH1):c.2295C>A (p.Pro765=) rs769746385
NM_022168.4(IFIH1):c.229C>T (p.Arg77Trp) rs147278787
NM_022168.4(IFIH1):c.2304+3A>G rs376806735
NM_022168.4(IFIH1):c.2317del (p.Glu773fs)
NM_022168.4(IFIH1):c.2361C>T (p.Ile787=) rs35677292
NM_022168.4(IFIH1):c.2366C>T (p.Thr789Ile) rs778200491
NM_022168.4(IFIH1):c.2427C>G (p.Leu809=) rs74162086
NM_022168.4(IFIH1):c.2427C>T (p.Leu809=) rs74162086
NM_022168.4(IFIH1):c.2435A>G (p.Asn812Ser) rs199638804
NM_022168.4(IFIH1):c.2454+7T>A
NM_022168.4(IFIH1):c.2490C>T (p.Tyr830=)
NM_022168.4(IFIH1):c.2493C>T (p.Val831=) rs1304689008
NM_022168.4(IFIH1):c.2523C>T (p.Ile841=)
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys) rs79324540
NM_022168.4(IFIH1):c.2617-4C>T
NM_022168.4(IFIH1):c.2796C>T (p.Thr932=)
NM_022168.4(IFIH1):c.2839C>T (p.Leu947=) rs931561363
NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu) rs144455277
NM_022168.4(IFIH1):c.2898+14T>C
NM_022168.4(IFIH1):c.2919G>C (p.Val973=) rs376116707
NM_022168.4(IFIH1):c.2937G>A (p.Leu979=) rs372007025
NM_022168.4(IFIH1):c.2962G>T (p.Val988Leu) rs74162090
NM_022168.4(IFIH1):c.384G>A (p.Lys128=)
NM_022168.4(IFIH1):c.420G>A (p.Glu140=) rs74162073
NM_022168.4(IFIH1):c.436A>G (p.Ile146Val) rs146721166
NM_022168.4(IFIH1):c.453+8T>A
NM_022168.4(IFIH1):c.45C>T (p.Ile15=)
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp) rs74162075
NM_022168.4(IFIH1):c.48G>C (p.Ser16=) rs1418349209
NM_022168.4(IFIH1):c.622+8T>C
NM_022168.4(IFIH1):c.729C>G (p.Asn243Lys) rs778501846
NM_022168.4(IFIH1):c.858C>G (p.Thr286=)
NM_022168.4(IFIH1):c.864A>G (p.Gly288=)
NM_022168.4(IFIH1):c.906G>A (p.Pro302=) rs775441863
NM_022168.4(IFIH1):c.966G>A (p.Gly322=) rs1414537811
NM_022168.4(IFIH1):c.987C>A (p.Leu329=)
NM_022168.4(IFIH1):c.988C>T (p.Pro330Ser) rs141848057

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