ClinVar Miner

List of variants in gene CD247 reported as likely benign for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_198053.3(CD247):c.360G>A (p.Ala120=) rs568106106 0.00058
NM_198053.3(CD247):c.58+11C>A rs375286157 0.00031
NM_198053.3(CD247):c.430-6C>T rs200103990 0.00011
NM_198053.3(CD247):c.336+20C>T rs377122263 0.00010
NM_198053.3(CD247):c.337-15C>T rs150725547 0.00009
NM_198053.3(CD247):c.444C>T (p.Ala148=) rs773084349 0.00009
NM_198053.3(CD247):c.251A>G (p.Asp84Gly) rs181746205 0.00008
NM_198053.3(CD247):c.462C>T (p.Asp154=) rs181656780 0.00008
NM_198053.3(CD247):c.337-14G>A rs375668936 0.00007
NM_198053.3(CD247):c.220-20C>T rs184666213 0.00006
NM_198053.3(CD247):c.58+12G>A rs776195661 0.00005
NM_198053.3(CD247):c.429+12C>T rs201171777 0.00004
NM_198053.3(CD247):c.58+17G>A rs371314747 0.00004
NM_198053.3(CD247):c.411G>C (p.Gly137=) rs148298128 0.00003
NM_198053.3(CD247):c.58+8C>T rs201494226 0.00003
NM_198053.3(CD247):c.414C>T (p.His138=) rs184894260 0.00002
NM_198053.3(CD247):c.430-5G>A rs767214938 0.00002
NM_198053.3(CD247):c.58+9G>A rs774727014 0.00002
NM_198053.3(CD247):c.15G>A (p.Ala5=) rs746701386 0.00001
NM_198053.3(CD247):c.219+9G>A rs1444139145 0.00001
NM_198053.3(CD247):c.301-15C>T rs778391175 0.00001
NM_198053.3(CD247):c.337-6C>A rs1313839129 0.00001
NM_198053.3(CD247):c.394-10A>G rs369387062 0.00001
NM_198053.3(CD247):c.39G>A (p.Gln13=) rs760945719 0.00001
NM_198053.3(CD247):c.429+16G>A rs777799139 0.00001
NM_198053.3(CD247):c.429+19C>T rs769910123 0.00001
NM_198053.3(CD247):c.151C>T (p.Leu51=)
NM_198053.3(CD247):c.15G>T (p.Ala5=)
NM_198053.3(CD247):c.162+15G>A
NM_198053.3(CD247):c.162+15G>T
NM_198053.3(CD247):c.162+7A>G
NM_198053.3(CD247):c.163-13T>C
NM_198053.3(CD247):c.219+10C>T
NM_198053.3(CD247):c.219+13C>G rs2101994086
NM_198053.3(CD247):c.219+13C>T rs2101994086
NM_198053.3(CD247):c.219+16C>G rs12141641
NM_198053.3(CD247):c.222G>A (p.Glu74=)
NM_198053.3(CD247):c.24C>T (p.Thr8=)
NM_198053.3(CD247):c.291G>A (p.Gly97=)
NM_198053.3(CD247):c.294A>G (p.Gly98=) rs1453205554
NM_198053.3(CD247):c.300+11C>T
NM_198053.3(CD247):c.300+13C>G
NM_198053.3(CD247):c.301-20C>T
NM_198053.3(CD247):c.309G>A (p.Arg103=)
NM_198053.3(CD247):c.328C>T (p.Leu110=)
NM_198053.3(CD247):c.337-11C>A
NM_198053.3(CD247):c.337-18C>G
NM_198053.3(CD247):c.337-4G>T
NM_198053.3(CD247):c.337-5T>C
NM_198053.3(CD247):c.345G>A (p.Gln115=) rs2101986584
NM_198053.3(CD247):c.348A>G (p.Lys116=)
NM_198053.3(CD247):c.381G>T (p.Gly127=)
NM_198053.3(CD247):c.394-19T>C
NM_198053.3(CD247):c.394-6_394-4del
NM_198053.3(CD247):c.394-8_394-5del rs769263658
NM_198053.3(CD247):c.417T>C (p.Asp139=)
NM_198053.3(CD247):c.429+13G>A
NM_198053.3(CD247):c.429+15C>T
NM_198053.3(CD247):c.430-12C>G
NM_198053.3(CD247):c.447C>T (p.Thr149=)
NM_198053.3(CD247):c.51G>A (p.Pro17=)
NM_198053.3(CD247):c.58+11C>T rs375286157
NM_198053.3(CD247):c.58+20G>C
NM_198053.3(CD247):c.59-6G>T
NM_198053.3(CD247):c.6G>A (p.Lys2=)
NM_198053.3(CD247):c.76C>T (p.Leu26=) rs1651787952

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