ClinVar Miner

List of variants in gene JAG1 reported as likely benign by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196 0.00180
NM_000214.3(JAG1):c.2301G>A (p.Thr767=) rs147634857 0.00165
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260 0.00121
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030 0.00109
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139 0.00092
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756 0.00069
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372 0.00054
NM_000214.3(JAG1):c.1389C>T (p.Ser463=) rs147229008 0.00050
NM_000214.3(JAG1):c.1755C>T (p.Asn585=) rs142808131 0.00045
NM_000214.3(JAG1):c.1920C>T (p.Asn640=) rs372121353 0.00040
NM_000214.3(JAG1):c.894T>C (p.Asn298=) rs149897344 0.00039
NM_000214.3(JAG1):c.2604T>C (p.Ser868=) rs138189639 0.00032
NM_000214.3(JAG1):c.82G>C (p.Val28Leu) rs142855305 0.00031
NM_000214.3(JAG1):c.2043G>A (p.Thr681=) rs151291264 0.00029
NM_000214.3(JAG1):c.3114T>G (p.Leu1038=) rs371805640 0.00026
NM_000214.3(JAG1):c.414G>A (p.Ala138=) rs371682149 0.00026
NM_000214.3(JAG1):c.399G>A (p.Thr133=) rs763154396 0.00024
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=) rs138452567 0.00022
NM_000214.3(JAG1):c.2073T>C (p.Cys691=) rs200648035 0.00019
NM_000214.3(JAG1):c.2979C>T (p.Ser993=) rs542976402 0.00016
NM_000214.3(JAG1):c.1806C>T (p.His602=) rs764290237 0.00015
NM_000214.3(JAG1):c.3555C>T (p.Pro1185=) rs142017684 0.00013
NM_000214.3(JAG1):c.526G>A (p.Val176Ile) rs199674138 0.00013
NM_000214.3(JAG1):c.1146C>T (p.Asn382=) rs200133928 0.00011
NM_000214.3(JAG1):c.2286C>T (p.Asn762=) rs144190443 0.00011
NM_000214.3(JAG1):c.1608C>T (p.Asn536=) rs200648453 0.00010
NM_000214.3(JAG1):c.1335G>A (p.Gln445=) rs759545669 0.00009
NM_000214.3(JAG1):c.3567G>A (p.Thr1189=) rs373846021 0.00009
NM_000214.3(JAG1):c.3003T>A (p.Ala1001=) rs775926205 0.00008
NM_000214.3(JAG1):c.1062C>T (p.Thr354=) rs201234509 0.00007
NM_000214.3(JAG1):c.1344C>T (p.Asp448=) rs754081766 0.00007
NM_000214.3(JAG1):c.2517C>T (p.Ile839=) rs560603550 0.00007
NM_000214.3(JAG1):c.732T>G (p.Ser244=) rs577656334 0.00007
NM_000214.3(JAG1):c.2877G>A (p.Ala959=) rs142085300 0.00006
NM_000214.3(JAG1):c.3153C>T (p.Ala1051=) rs754593633 0.00006
NM_000214.3(JAG1):c.3333C>T (p.Thr1111=) rs141439542 0.00006
NM_000214.3(JAG1):c.2673C>T (p.Ala891=) rs149889701 0.00005
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=) rs201572666 0.00005
NM_000214.3(JAG1):c.1182C>T (p.Asn394=) rs372951958 0.00004
NM_000214.3(JAG1):c.2139G>A (p.Thr713=) rs374177670 0.00004
NM_000214.3(JAG1):c.27G>C (p.Arg9=) rs766143399 0.00004
NM_000214.3(JAG1):c.2829G>A (p.Pro943=) rs546984480 0.00004
NM_000214.3(JAG1):c.3651C>T (p.Ile1217=) rs542831744 0.00004
NM_000214.3(JAG1):c.400T>C (p.Leu134=) rs140511204 0.00004
NM_000214.3(JAG1):c.1797T>C (p.Cys599=) rs746760284 0.00003
NM_000214.3(JAG1):c.2550C>T (p.His850=) rs777696420 0.00003
NM_000214.3(JAG1):c.3141G>A (p.Ser1047=) rs202075581 0.00003
NM_000214.3(JAG1):c.3525G>A (p.Ala1175=) rs745431482 0.00003
NM_000214.3(JAG1):c.3561C>T (p.Asn1187=) rs754010868 0.00003
NM_000214.3(JAG1):c.48C>A (p.Leu16=) rs901489977 0.00003
NM_000214.3(JAG1):c.819C>T (p.His273=) rs368502056 0.00003
NM_000214.3(JAG1):c.1224G>A (p.Thr408=) rs771839716 0.00002
NM_000214.3(JAG1):c.1707G>A (p.Thr569=) rs745608068 0.00002
NM_000214.3(JAG1):c.2049C>T (p.Arg683=) rs1389234825 0.00002
NM_000214.3(JAG1):c.2499G>A (p.Ala833=) rs201954371 0.00002
NM_000214.3(JAG1):c.2727C>T (p.Ser909=) rs561945870 0.00002
NM_000214.3(JAG1):c.2739C>T (p.Ser913=) rs766479402 0.00002
NM_000214.3(JAG1):c.3477C>T (p.Asp1159=) rs765431052 0.00002
NM_000214.3(JAG1):c.388-4G>C rs567027490 0.00002
NM_000214.3(JAG1):c.975T>G (p.Pro325=) rs1179713453 0.00002
NM_000214.3(JAG1):c.1101C>T (p.Thr367=) rs766771784 0.00001
NM_000214.3(JAG1):c.1155C>T (p.His385=) rs531019589 0.00001
NM_000214.3(JAG1):c.1536G>A (p.Leu512=) rs375773178 0.00001
NM_000214.3(JAG1):c.1680C>T (p.Cys560=) rs886041868 0.00001
NM_000214.3(JAG1):c.1704C>T (p.Arg568=) rs144985667 0.00001
NM_000214.3(JAG1):c.1710C>T (p.Thr570=) rs781005644 0.00001
NM_000214.3(JAG1):c.1866G>A (p.Thr622=) rs140624746 0.00001
NM_000214.3(JAG1):c.1971C>T (p.Asp657=) rs368661822 0.00001
NM_000214.3(JAG1):c.2148C>T (p.Asn716=) rs550565756 0.00001
NM_000214.3(JAG1):c.2445C>T (p.Pro815=) rs777122869 0.00001
NM_000214.3(JAG1):c.2559C>T (p.Ala853=) rs201234393 0.00001
NM_000214.3(JAG1):c.2817C>T (p.Ser939=) rs1180418350 0.00001
NM_000214.3(JAG1):c.3081G>A (p.Pro1027=) rs766664730 0.00001
NM_000214.3(JAG1):c.3297G>A (p.Pro1099=) rs748849177 0.00001
NM_000214.3(JAG1):c.3307A>G (p.Thr1103Ala) rs750032058 0.00001
NM_000214.3(JAG1):c.3342C>T (p.Asn1114=) rs759853433 0.00001
NM_000214.3(JAG1):c.3591A>C (p.Thr1197=) rs531698711 0.00001
NM_000214.3(JAG1):c.474G>A (p.Ser158=) rs555794483 0.00001
NM_000214.3(JAG1):c.681C>T (p.Pro227=) rs748982554 0.00001
NM_000214.3(JAG1):c.702C>T (p.Cys234=) rs202109974 0.00001
NM_000214.3(JAG1):c.867C>T (p.Gly289=) rs144935832 0.00001
NM_000214.3(JAG1):c.915G>A (p.Pro305=) rs371165309 0.00001
NM_000214.3(JAG1):c.1047C>A (p.Gly349=)
NM_000214.3(JAG1):c.111G>A (p.Leu37=)
NM_000214.3(JAG1):c.1209G>A (p.Gln403=)
NM_000214.3(JAG1):c.1230G>A (p.Gln410=)
NM_000214.3(JAG1):c.1251G>A (p.Glu417=)
NM_000214.3(JAG1):c.1254C>T (p.Ala418=)
NM_000214.3(JAG1):c.1269C>T (p.Asn423=)
NM_000214.3(JAG1):c.1338T>C (p.Asn446=)
NM_000214.3(JAG1):c.1392T>C (p.Cys464=)
NM_000214.3(JAG1):c.1482C>T (p.Asn494=)
NM_000214.3(JAG1):c.153C>T (p.Asn51=) rs2067507683
NM_000214.3(JAG1):c.1551C>T (p.Phe517=)
NM_000214.3(JAG1):c.1827G>C (p.Ser609=) rs779802470
NM_000214.3(JAG1):c.183G>C (p.Pro61=)
NM_000214.3(JAG1):c.1872A>T (p.Thr624=)
NM_000214.3(JAG1):c.1881T>C (p.His627=) rs2067313363
NM_000214.3(JAG1):c.1896C>T (p.Asp632=)
NM_000214.3(JAG1):c.18G>A (p.Thr6=) rs576539291
NM_000214.3(JAG1):c.1916G>A (p.Arg639Lys)
NM_000214.3(JAG1):c.2136C>A (p.Ala712=)
NM_000214.3(JAG1):c.2136C>T (p.Ala712=)
NM_000214.3(JAG1):c.2280G>T (p.Val760=)
NM_000214.3(JAG1):c.2430G>A (p.Pro810=)
NM_000214.3(JAG1):c.255C>T (p.Arg85=)
NM_000214.3(JAG1):c.2829G>T (p.Pro943=)
NM_000214.3(JAG1):c.28T>C (p.Ser10Pro)
NM_000214.3(JAG1):c.2934C>T (p.His978=)
NM_000214.3(JAG1):c.294C>G (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.303C>G (p.Val101=)
NM_000214.3(JAG1):c.3222C>T (p.Ser1074=)
NM_000214.3(JAG1):c.3297G>C (p.Pro1099=)
NM_000214.3(JAG1):c.3309A>T (p.Thr1103=)
NM_000214.3(JAG1):c.3348G>A (p.Arg1116=)
NM_000214.3(JAG1):c.3387T>C (p.His1129=)
NM_000214.3(JAG1):c.33G>T (p.Gly11=)
NM_000214.3(JAG1):c.3558C>T (p.Pro1186=)
NM_000214.3(JAG1):c.40C>T (p.Leu14=)
NM_000214.3(JAG1):c.42A>G (p.Leu14=)
NM_000214.3(JAG1):c.468T>C (p.Ser156=) rs2122623838
NM_000214.3(JAG1):c.48C>T (p.Leu16=) rs901489977
NM_000214.3(JAG1):c.513G>A (p.Lys171=)
NM_000214.3(JAG1):c.51G>A (p.Leu17=) rs1018632242
NM_000214.3(JAG1):c.552C>T (p.Arg184=)
NM_000214.3(JAG1):c.558C>T (p.Thr186=) rs776616206
NM_000214.3(JAG1):c.6T>G (p.Arg2=)
NM_000214.3(JAG1):c.807G>C (p.Pro269=) rs753646278
NM_000214.3(JAG1):c.837C>A (p.Pro279=)
NM_000214.3(JAG1):c.84G>A (p.Val28=)
NM_000214.3(JAG1):c.939C>T (p.Ser313=)

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