ClinVar Miner

List of variants reported as 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: 41
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HGVS dbSNP
NM_022168.4(IFIH1):c.103C>T (p.Leu35=) rs75342243
NM_022168.4(IFIH1):c.1046A>G (p.Lys349Arg) rs72650664
NM_022168.4(IFIH1):c.1093A>G (p.Lys365Glu)
NM_022168.4(IFIH1):c.1379A>G (p.His460Arg)
NM_022168.4(IFIH1):c.1481G>T (p.Gly494Val) rs147000317
NM_022168.4(IFIH1):c.1491G>C (p.Thr497=)
NM_022168.4(IFIH1):c.1623T>C (p.Ile541=)
NM_022168.4(IFIH1):c.1641+1G>C rs35337543
NM_022168.4(IFIH1):c.1642-19G>A
NM_022168.4(IFIH1):c.1723A>G (p.Thr575Ala) rs138057665
NM_022168.4(IFIH1):c.1764dup (p.Ala589fs) rs553669430
NM_022168.4(IFIH1):c.1766-6del rs548261817
NM_022168.4(IFIH1):c.177T>C (p.Val59=) rs115500208
NM_022168.4(IFIH1):c.1812G>A (p.Leu604=)
NM_022168.4(IFIH1):c.1866G>A (p.Ala622=) rs766027130
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605
NM_022168.4(IFIH1):c.1899G>T (p.Glu633Asp) rs550930413
NM_022168.4(IFIH1):c.2016del (p.Asp673fs) rs773033563
NM_022168.4(IFIH1):c.2052T>C (p.Asn684=)
NM_022168.4(IFIH1):c.2115A>C (p.Arg705Ser) rs185928139
NM_022168.4(IFIH1):c.2239G>A (p.Val747Ile) rs200389061
NM_022168.4(IFIH1):c.2305-19T>C
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr) rs148369169
NM_022168.4(IFIH1):c.2454+6T>C rs6748554
NM_022168.4(IFIH1):c.2454+9A>G rs193149001
NM_022168.4(IFIH1):c.2455-7T>A rs41399348
NM_022168.4(IFIH1):c.2469C>T (p.Ala823=) rs13418718
NM_022168.4(IFIH1):c.2528A>G (p.His843Arg) rs3747517
NM_022168.4(IFIH1):c.258C>G (p.Thr86=) rs143870870
NM_022168.4(IFIH1):c.2616+11T>C
NM_022168.4(IFIH1):c.2682G>A (p.Lys894=) rs374488772
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.2807+1G>A rs35732034
NM_022168.4(IFIH1):c.2836G>A (p.Ala946Thr) rs1990760
NM_022168.4(IFIH1):c.2899-4C>T rs114541610
NM_022168.4(IFIH1):c.2946C>T (p.Leu982=) rs74162089
NM_022168.4(IFIH1):c.427C>T (p.Leu143=) rs143902922
NM_022168.4(IFIH1):c.623-19C>G
NM_022168.4(IFIH1):c.653C>T (p.Pro218Leu) rs539777490

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