ClinVar Miner

List of variants in gene IFIH1 reported as benign for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_022168.4(IFIH1):c.2528A>G (p.His843Arg) rs3747517 0.68382
NM_022168.4(IFIH1):c.2836G>A (p.Ala946Thr) rs1990760 0.44895
NM_022168.4(IFIH1):c.2616+11T>C rs3747518 0.16097
NM_022168.4(IFIH1):c.2469C>T (p.Ala823=) rs13418718 0.10215
NM_022168.4(IFIH1):c.1379A>G (p.His460Arg) rs10930046 0.09666
NM_022168.4(IFIH1):c.2305-19T>C rs74162085 0.02187
NM_022168.4(IFIH1):c.2455-7T>A rs41399348 0.02185
NM_022168.4(IFIH1):c.2454+6T>C rs6748554 0.02184
NM_022168.4(IFIH1):c.2767A>G (p.Ile923Val) rs35667974 0.01195
NM_022168.4(IFIH1):c.177T>C (p.Val59=) rs115500208 0.00826
NM_022168.4(IFIH1):c.1641+1G>C rs35337543 0.00728
NM_022168.4(IFIH1):c.2807+1G>A rs35732034 0.00502
NM_022168.4(IFIH1):c.258C>G (p.Thr86=) rs143870870 0.00424
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605 0.00367
NM_022168.4(IFIH1):c.2946C>T (p.Leu982=) rs74162089 0.00240
NM_022168.4(IFIH1):c.1481G>T (p.Gly494Val) rs147000317 0.00228
NM_022168.4(IFIH1):c.2899-4C>T rs114541610 0.00220
NM_022168.4(IFIH1):c.2785G>A (p.Val929Ile) rs140562355 0.00214
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr) rs148369169 0.00207
NM_022168.4(IFIH1):c.427C>T (p.Leu143=) rs143902922 0.00192
NM_022168.4(IFIH1):c.1723A>G (p.Thr575Ala) rs138057665 0.00162
NM_022168.4(IFIH1):c.1046A>G (p.Lys349Arg) rs72650664 0.00111
NM_022168.4(IFIH1):c.1642-19G>A rs189341467 0.00082
NM_022168.4(IFIH1):c.623-19C>G rs371045477 0.00078
NM_022168.4(IFIH1):c.2898+17G>A rs145381408 0.00068
NM_022168.4(IFIH1):c.2784C>T (p.His928=) rs145187664 0.00060
NM_022168.4(IFIH1):c.103C>T (p.Leu35=) rs75342243 0.00031
NM_022168.4(IFIH1):c.2392A>G (p.Ile798Val) rs758387388 0.00031
NM_022168.4(IFIH1):c.2016del (p.Asp673fs) rs773033563 0.00028
NM_022168.4(IFIH1):c.1623T>C (p.Ile541=) rs200947696 0.00022
NM_022168.4(IFIH1):c.1093A>G (p.Lys365Glu) rs117608083 0.00021
NM_022168.4(IFIH1):c.1642-20A>C rs191343755 0.00021
NM_022168.4(IFIH1):c.453+5G>C rs548027236 0.00021
NM_022168.4(IFIH1):c.2682G>A (p.Lys894=) rs374488772 0.00019
NM_022168.4(IFIH1):c.2454+9A>G rs193149001 0.00016
NM_022168.4(IFIH1):c.2239G>A (p.Val747Ile) rs200389061 0.00015
NM_022168.4(IFIH1):c.1812G>A (p.Leu604=) rs118172671 0.00013
NM_022168.4(IFIH1):c.1524+19T>C rs374493449 0.00011
NM_022168.4(IFIH1):c.2052T>C (p.Asn684=) rs781523339 0.00010
NM_022168.4(IFIH1):c.1853G>A (p.Arg618Gln) rs200017837 0.00007
NM_022168.4(IFIH1):c.2115A>C (p.Arg705Ser) rs185928139 0.00006
NM_022168.4(IFIH1):c.769+17C>T rs74162076 0.00006
NM_022168.4(IFIH1):c.1787_1797del (p.Lys596fs) rs766039450 0.00005
NM_022168.4(IFIH1):c.1866G>A (p.Ala622=) rs766027130 0.00005
NM_022168.4(IFIH1):c.1899G>T (p.Glu633Asp) rs550930413 0.00005
NM_022168.4(IFIH1):c.2464C>T (p.Arg822Ter) rs747926684 0.00005
NM_022168.4(IFIH1):c.2304+20C>T rs561559397 0.00004
NM_022168.4(IFIH1):c.2182C>T (p.Arg728Ter) rs201193151 0.00003
NM_022168.4(IFIH1):c.1096-10T>A rs773810038 0.00001
NM_022168.4(IFIH1):c.622+15A>G rs200515533 0.00001
NM_022168.4(IFIH1):c.919C>T (p.Gln307Ter) rs762821474 0.00001
NM_022168.4(IFIH1):c.1096-4del rs1453617092
NM_022168.4(IFIH1):c.1491G>C (p.Thr497=) rs12479043
NM_022168.4(IFIH1):c.1524+18G>A
NM_022168.4(IFIH1):c.1589del (p.Asn530fs) rs779192156
NM_022168.4(IFIH1):c.1642-3del
NM_022168.4(IFIH1):c.1764dup (p.Ala589fs) rs553669430
NM_022168.4(IFIH1):c.1766-6del rs548261817
NM_022168.4(IFIH1):c.2035_2036del (p.Leu679fs) rs774076578
NM_022168.4(IFIH1):c.653C>T (p.Pro218Leu) rs539777490
NM_022168.4(IFIH1):c.770-10del
NM_022168.4(IFIH1):c.875-11A>C rs186664431
NM_022168.4(IFIH1):c.936A>G (p.Gln312=)

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