ClinVar Miner

List of variants in gene CD247 studied for T-B+ severe combined immunodeficiency

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 146
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HGVS dbSNP gnomAD frequency
NM_198053.3(CD247):c.300+121A>G rs2462553 0.86442
NM_198053.3(CD247):c.219+16C>A rs12141641 0.10900
NM_198053.3(CD247):c.249C>T (p.Tyr83=) rs33937946 0.07227
NM_198053.3(CD247):c.246G>A (p.Glu82=) rs34940956 0.01978
NM_198053.3(CD247):c.300+8T>A rs56199250 0.00577
NM_198053.3(CD247):c.430-18G>A rs116757108 0.00086
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.337-7T>C rs36056000 0.00024
NM_198053.3(CD247):c.301C>T (p.Gln101Ter) rs55729925 0.00021
NM_198053.3(CD247):c.100C>T (p.Leu34=) rs181342622 0.00017
NM_198053.3(CD247):c.275G>A (p.Arg92Gln) rs367690333 0.00016
NM_198053.3(CD247):c.397C>T (p.Arg133Trp) rs751981677 0.00013
NM_198053.3(CD247):c.167G>T (p.Ser56Ile) rs372651048 0.00011
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.148T>C (p.Phe50Leu) rs147458563 0.00008
NM_198053.3(CD247):c.251A>G (p.Asp84Gly) rs181746205 0.00008
NM_198053.3(CD247):c.310A>G (p.Lys104Glu) rs145505909 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.220-3T>C rs369712780 0.00005
NM_198053.3(CD247):c.58+12G>A rs776195661 0.00005
NM_198053.3(CD247):c.155G>A (p.Arg52Lys) rs368651001 0.00004
NM_198053.3(CD247):c.274C>T (p.Arg92Trp) rs144963570 0.00004
NM_198053.3(CD247):c.288G>T (p.Met96Ile) rs139926301 0.00004
NM_198053.3(CD247):c.300G>A (p.Pro100=) rs541120315 0.00004
NM_198053.3(CD247):c.429+12C>T rs201171777 0.00004
NM_198053.3(CD247):c.491G>A (p.Arg164His) rs201937405 0.00004
NM_198053.3(CD247):c.58+17G>A rs371314747 0.00004
NM_198053.3(CD247):c.177A>G (p.Ala59=) rs373031213 0.00003
NM_198053.3(CD247):c.398G>A (p.Arg133Gln) rs147527561 0.00003
NM_198053.3(CD247):c.411G>C (p.Gly137=) rs148298128 0.00003
NM_198053.3(CD247):c.463G>A (p.Ala155Thr) rs561262982 0.00003
NM_198053.3(CD247):c.486C>T (p.Pro162=) rs190037664 0.00003
NM_198053.3(CD247):c.58+8C>T rs201494226 0.00003
NM_198053.3(CD247):c.250G>C (p.Asp84His) rs753572867 0.00002
NM_198053.3(CD247):c.253G>A (p.Val85Ile) rs371709798 0.00002
NM_198053.3(CD247):c.28G>T (p.Ala10Ser) rs753889129 0.00002
NM_198053.3(CD247):c.394C>T (p.Arg132Cys) rs781510519 0.00002
NM_198053.3(CD247):c.414C>T (p.His138=) rs184894260 0.00002
NM_198053.3(CD247):c.427C>T (p.Gln143Ter) rs759213998 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.111A>T (p.Gly37=) rs201451004 0.00001
NM_198053.3(CD247):c.15G>A (p.Ala5=) rs746701386 0.00001
NM_198053.3(CD247):c.175G>A (p.Ala59Thr) rs767112686 0.00001
NM_198053.3(CD247):c.219+9G>A rs1444139145 0.00001
NM_198053.3(CD247):c.263A>G (p.Lys88Arg) rs143180729 0.00001
NM_198053.3(CD247):c.268C>T (p.Arg90Cys) rs148513413 0.00001
NM_198053.3(CD247):c.269G>A (p.Arg90His) rs1162990874 0.00001
NM_198053.3(CD247):c.27G>A (p.Ala9=) rs757294201 0.00001
NM_198053.3(CD247):c.289G>A (p.Gly97Arg) rs56297636 0.00001
NM_198053.3(CD247):c.300+3A>G rs1259655555 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.359C>T (p.Ala120Val) rs745871212 0.00001
NM_198053.3(CD247):c.386A>G (p.Lys129Arg) rs756340039 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.490C>T (p.Arg164Cys) rs752198795 0.00001
NM_198053.3(CD247):c.495A>C (p.Ter165Tyr) rs1651272129 0.00001
NM_198053.3(CD247):c.51dup (p.Ile18fs) rs1553238837 0.00001
NC_000001.10:g.(?_167400898)_(167487722_?)dup
NC_000001.10:g.(?_167400918)_(167410024_?)dup
NC_000001.10:g.(?_167487625)_(167487702_?)del
NM_198053.3(CD247):c.112A>G (p.Ile38Val) rs749227138
NM_198053.3(CD247):c.128G>T (p.Gly43Val) rs1557996000
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.162+8C>A rs1571515476
NM_198053.3(CD247):c.163-13T>C
NM_198053.3(CD247):c.182C>T (p.Ala61Val)
NM_198053.3(CD247):c.187G>C (p.Ala63Pro) rs55893506
NM_198053.3(CD247):c.191A>G (p.Tyr64Cys)
NM_198053.3(CD247):c.206A>C (p.Asn69Thr)
NM_198053.3(CD247):c.208C>T (p.Gln70Ter) rs74315290
NM_198053.3(CD247):c.208_209inv (p.Gln70Trp)
NM_198053.3(CD247):c.208_210delinsTAT (p.Gln70Tyr) rs193922741
NM_198053.3(CD247):c.209A>T (p.Gln70Leu) rs193922740
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.227A>G (p.Asn76Ser) rs943679483
NM_198053.3(CD247):c.235C>G (p.Arg79Gly) rs779397562
NM_198053.3(CD247):c.235C>T (p.Arg79Ter) rs779397562
NM_198053.3(CD247):c.24C>T (p.Thr8=)
NM_198053.3(CD247):c.250G>A (p.Asp84Asn) rs753572867
NM_198053.3(CD247):c.250G>T (p.Asp84Tyr) rs753572867
NM_198053.3(CD247):c.251A>C (p.Asp84Ala) rs181746205
NM_198053.3(CD247):c.25G>A (p.Ala9Thr)
NM_198053.3(CD247):c.26C>T (p.Ala9Val) rs200420054
NM_198053.3(CD247):c.291G>A (p.Gly97=)
NM_198053.3(CD247):c.294A>G (p.Gly98=) rs1453205554
NM_198053.3(CD247):c.2T>C (p.Met1Thr) rs672601318
NM_198053.3(CD247):c.300+11C>T
NM_198053.3(CD247):c.300+13C>G
NM_198053.3(CD247):c.301-14G>A rs373120668
NM_198053.3(CD247):c.301-20C>T
NM_198053.3(CD247):c.308G>A (p.Arg103Lys)
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.350A>G (p.Asp117Gly) rs2101986573
NM_198053.3(CD247):c.365C>G (p.Ala122Gly)
NM_198053.3(CD247):c.370A>T (p.Ser124Cys) rs1651406974
NM_198053.3(CD247):c.37C>A (p.Gln13Lys) rs751300208
NM_198053.3(CD247):c.381G>T (p.Gly127=)
NM_198053.3(CD247):c.390C>T (p.Gly130=)
NM_198053.3(CD247):c.394-19T>C
NM_198053.3(CD247):c.394-19T>G
NM_198053.3(CD247):c.394-6_394-4del
NM_198053.3(CD247):c.394-8_394-5del rs769263658
NM_198053.3(CD247):c.395G>A (p.Arg132His)
NM_198053.3(CD247):c.401G>A (p.Arg134Lys)
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.430-6C>A
NM_198053.3(CD247):c.447C>T (p.Thr149=)
NM_198053.3(CD247):c.44A>T (p.Gln15Leu)
NM_198053.3(CD247):c.45G>C (p.Gln15His)
NM_198053.3(CD247):c.488C>G (p.Pro163Arg)
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.58+6G>T
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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