List of variants studied for Immunodeficiency 25 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 146

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HGVS	dbSNP	gnomAD frequency
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.397C>T (p.Arg133Trp)	rs751981677	0.00013
NM_198053.3(CD247):c.167G>T (p.Ser56Ile)	rs372651048	0.00011
NM_198053.3(CD247):c.275G>A (p.Arg92Gln)	rs367690333	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.(?_167400918)_(168282240_?)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.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.220-14_220-12del
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.300+11C>T
NM_198053.3(CD247):c.300+13C>G
NM_198053.3(CD247):c.300+7G>A
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.394-8A>T
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.411G>A (p.Gly137=)
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.459C>T (p.Tyr153=)
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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