List of variants reported as likely benign for Carney-Stratakis syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 188

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HGVS	dbSNP	gnomAD frequency
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)	rs11203289	0.01309
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)	rs34677591	0.00706
NM_003002.4(SDHD):c.312C>T (p.His104=)	rs61734352	0.00690
NM_003002.4(SDHD):c.149A>G (p.His50Arg)	rs11214077	0.00679
NM_003000.3(SDHB):c.170A>G (p.His57Arg)	rs35962811	0.00231
NM_003000.3(SDHB):c.32G>A (p.Arg11His)	rs111430410	0.00185
NM_003000.3(SDHB):c.300T>C (p.Ser100=)	rs11541235	0.00157
NM_003000.3(SDHB):c.21C>T (p.Leu7=)	rs147815442	0.00054
NM_003000.3(SDHB):c.158G>A (p.Gly53Glu)	rs34916635	0.00041
NM_003000.3(SDHB):c.113G>A (p.Arg38His)	rs143058777	0.00010
NM_003001.5(SDHC):c.405+13G>A	rs369274171	0.00008
NM_003002.4(SDHD):c.80G>A (p.Arg27Lys)	rs200671534	0.00006
NM_003002.4(SDHD):c.170-19A>G	rs1296685617	0.00003
NM_003002.4(SDHD):c.282C>T (p.Ser94=)	rs781182616	0.00003
NM_003002.4(SDHD):c.315-14T>C	rs1406470864	0.00003
NM_003002.4(SDHD):c.52+13C>G	rs954474648	0.00003
NM_003002.4(SDHD):c.18G>A (p.Arg6=)	rs200895313	0.00002
NM_003002.4(SDHD):c.228C>T (p.Leu76=)	rs148634289	0.00002
NM_003002.4(SDHD):c.366A>G (p.Lys122=)	rs780764151	0.00002
NM_003002.4(SDHD):c.435C>T (p.His145=)	rs200062830	0.00002
NM_003002.4(SDHD):c.438T>C (p.Asp146=)	rs201328474	0.00002
NM_003002.4(SDHD):c.52+8G>A	rs370761122	0.00002
NM_003000.3(SDHB):c.700C>T (p.Leu234=)	rs201728852	0.00001
NM_003002.4(SDHD):c.141G>A (p.Gln47=)	rs1217254088	0.00001
NM_003002.4(SDHD):c.159G>A (p.Pro53=)	rs201368675	0.00001
NM_003002.4(SDHD):c.170-12T>C	rs764191089	0.00001
NM_003002.4(SDHD):c.170-18A>C	rs1402144794	0.00001
NM_003002.4(SDHD):c.170-6T>C	rs753703004	0.00001
NM_003002.4(SDHD):c.21G>A (p.Leu7=)	rs974401612	0.00001
NM_003002.4(SDHD):c.231G>C (p.Leu77=)	rs1187106228	0.00001
NM_003002.4(SDHD):c.243G>C (p.Pro81=)	rs575262156	0.00001
NM_003002.4(SDHD):c.264C>T (p.Cys88=)	rs761615413	0.00001
NM_003002.4(SDHD):c.270G>A (p.Ala90=)	rs766656463	0.00001
NM_003002.4(SDHD):c.297C>T (p.Leu99=)	rs749657880	0.00001
NM_003002.4(SDHD):c.314+12A>G	rs201163618	0.00001
NM_003002.4(SDHD):c.315-18T>G	rs1260988180	0.00001
NM_003002.4(SDHD):c.327A>G (p.Gln109=)	rs1566702383	0.00001
NM_003002.4(SDHD):c.33C>T (p.Cys11=)	rs104894309	0.00001
NM_003002.4(SDHD):c.342T>C (p.Tyr114=)	rs1050032491	0.00001
NM_003002.4(SDHD):c.405C>A (p.Thr135=)	rs1555187606	0.00001
NM_003002.4(SDHD):c.52+19C>T	rs1566690388	0.00001
NM_003002.4(SDHD):c.53-10C>G	rs201350484	0.00001
NM_003000.3(SDHB):c.424-37TTC[10]	rs34261028
NM_003002.4(SDHD):c.112C>A (p.Arg38=)
NM_003002.4(SDHD):c.114A>G (p.Arg38=)	rs1555186794
NM_003002.4(SDHD):c.123A>C (p.Pro41=)
NM_003002.4(SDHD):c.126A>G (p.Glu42=)	rs2135267333
NM_003002.4(SDHD):c.12C>T (p.Leu4=)	rs2135264636
NM_003002.4(SDHD):c.138G>A (p.Val46=)	rs2135267384
NM_003002.4(SDHD):c.150C>T (p.His50=)
NM_003002.4(SDHD):c.165C>T (p.His55=)	rs1592779061
NM_003002.4(SDHD):c.169+11T>C
NM_003002.4(SDHD):c.169+16C>T
NM_003002.4(SDHD):c.169+20G>T
NM_003002.4(SDHD):c.169+7TC[2]
NM_003002.4(SDHD):c.169+8C>T	rs1592779083
NM_003002.4(SDHD):c.170-10C>A
NM_003002.4(SDHD):c.170-10C>T	rs952278127
NM_003002.4(SDHD):c.170-11C>T	rs2135269102
NM_003002.4(SDHD):c.170-13G>A	rs1447202823
NM_003002.4(SDHD):c.170-14G>C	rs919536825
NM_003002.4(SDHD):c.170-18del	rs766754598
NM_003002.4(SDHD):c.170-20G>A	rs2135269091
NM_003002.4(SDHD):c.170-20G>C
NM_003002.4(SDHD):c.170-20G>T	rs2135269091
NM_003002.4(SDHD):c.170-8T>A	rs2135269114
NM_003002.4(SDHD):c.170-9T>C	rs1592780269
NM_003002.4(SDHD):c.171T>C (p.Ser57=)	rs2135269133
NM_003002.4(SDHD):c.177C>T (p.Ser59=)	rs764869982
NM_003002.4(SDHD):c.183T>C (p.Ala61=)	rs2135269188
NM_003002.4(SDHD):c.186A>T (p.Ala62=)	rs11547899
NM_003002.4(SDHD):c.189T>C (p.Ser63=)
NM_003002.4(SDHD):c.192C>A (p.Leu64=)
NM_003002.4(SDHD):c.192C>G (p.Leu64=)	rs1592780337
NM_003002.4(SDHD):c.195C>T (p.His65=)	rs11547893
NM_003002.4(SDHD):c.19C>T (p.Leu7=)	rs1337542194
NM_003002.4(SDHD):c.201T>C (p.Thr67=)	rs2135269268
NM_003002.4(SDHD):c.207G>A (p.Glu69=)	rs1592780392
NM_003002.4(SDHD):c.213T>G (p.Val71=)
NM_003002.4(SDHD):c.216C>G (p.Val72=)	rs1592780438
NM_003002.4(SDHD):c.216C>T (p.Val72=)
NM_003002.4(SDHD):c.219T>C (p.Ser73=)	rs2135269373
NM_003002.4(SDHD):c.21G>T (p.Leu7=)
NM_003002.4(SDHD):c.223T>C (p.Leu75=)	rs2135269384
NM_003002.4(SDHD):c.246T>A (p.Ala82=)
NM_003002.4(SDHD):c.246T>C (p.Ala82=)	rs2135269508
NM_003002.4(SDHD):c.246T>G (p.Ala82=)
NM_003002.4(SDHD):c.261T>C (p.Pro87=)
NM_003002.4(SDHD):c.269C>A (p.Ala90Glu)	rs200255724
NM_003002.4(SDHD):c.269C>T (p.Ala90Val)	rs200255724
NM_003002.4(SDHD):c.270G>C (p.Ala90=)	rs766656463
NM_003002.4(SDHD):c.270G>T (p.Ala90=)	rs766656463
NM_003002.4(SDHD):c.276C>T (p.Asp92=)	rs2135269643
NM_003002.4(SDHD):c.27C>A (p.Ala9=)	rs1555186670
NM_003002.4(SDHD):c.27C>G (p.Ala9=)
NM_003002.4(SDHD):c.27C>T (p.Ala9=)	rs1555186670
NM_003002.4(SDHD):c.282C>G (p.Ser94=)	rs781182616
NM_003002.4(SDHD):c.283C>T (p.Leu95=)	rs1865691704
NM_003002.4(SDHD):c.288T>C (p.Ala96=)	rs2135269735
NM_003002.4(SDHD):c.288T>G (p.Ala96=)
NM_003002.4(SDHD):c.291A>C (p.Ala97=)	rs1592780682
NM_003002.4(SDHD):c.303T>G (p.Leu101=)
NM_003002.4(SDHD):c.314+13A>G
NM_003002.4(SDHD):c.314+15T>A
NM_003002.4(SDHD):c.314+17C>T
NM_003002.4(SDHD):c.314+18A>C
NM_003002.4(SDHD):c.314+19A>G
NM_003002.4(SDHD):c.314+20del	rs755475561
NM_003002.4(SDHD):c.314+7A>T	rs2135269897
NM_003002.4(SDHD):c.314+8T>C	rs199645781
NM_003002.4(SDHD):c.314+8T>G	rs199645781
NM_003002.4(SDHD):c.315-12C>A
NM_003002.4(SDHD):c.315-12dup
NM_003002.4(SDHD):c.315-16T>G
NM_003002.4(SDHD):c.315-18T>A	rs1260988180
NM_003002.4(SDHD):c.315-4T>G	rs944726340
NM_003002.4(SDHD):c.315-8T>C	rs1592786101
NM_003002.4(SDHD):c.315-9T>G	rs911853469
NM_003002.4(SDHD):c.318C>A (p.Gly106=)	rs878854592
NM_003002.4(SDHD):c.318C>T (p.Gly106=)	rs878854592
NM_003002.4(SDHD):c.336T>C (p.Thr112=)
NM_003002.4(SDHD):c.348T>C (p.His116=)	rs2135277453
NM_003002.4(SDHD):c.351G>T (p.Gly117=)	rs1566702512
NM_003002.4(SDHD):c.354T>C (p.Asp118=)	rs911663426
NM_003002.4(SDHD):c.357C>T (p.Ala119=)	rs2135277494
NM_003002.4(SDHD):c.363G>A (p.Gln121=)	rs2135277509
NM_003002.4(SDHD):c.369T>C (p.Ala123=)	rs747779190
NM_003002.4(SDHD):c.36T>G (p.Gly12=)	rs1592777328
NM_003002.4(SDHD):c.372C>G (p.Ala124=)	rs2135277535
NM_003002.4(SDHD):c.375G>A (p.Lys125=)
NM_003002.4(SDHD):c.378A>G (p.Ala126=)
NM_003002.4(SDHD):c.381G>T (p.Gly127=)
NM_003002.4(SDHD):c.390A>G (p.Ala130=)
NM_003002.4(SDHD):c.393T>C (p.Leu131=)
NM_003002.4(SDHD):c.396A>C (p.Ser132=)	rs2135277619
NM_003002.4(SDHD):c.39C>T (p.Ala13=)	rs1566690237
NM_003002.4(SDHD):c.405C>T (p.Thr135=)	rs1555187606
NM_003002.4(SDHD):c.40C>T (p.Leu14=)	rs1060503772
NM_003002.4(SDHD):c.411T>C (p.Ala137=)	rs1298909305
NM_003002.4(SDHD):c.414G>A (p.Gly138=)	rs1174448545
NM_003002.4(SDHD):c.429C>T (p.Asn143=)	rs1036199125
NM_003002.4(SDHD):c.42A>G (p.Leu14=)	rs878854593
NM_003002.4(SDHD):c.42A>T (p.Leu14=)
NM_003002.4(SDHD):c.450C>T (p.Cys150=)	rs201337439
NM_003002.4(SDHD):c.45A>T (p.Gly15=)	rs2135264801
NM_003002.4(SDHD):c.466C>T (p.Leu156=)	rs2135277839
NM_003002.4(SDHD):c.468G>A (p.Leu156=)	rs2135277845
NM_003002.4(SDHD):c.477C>G (p.Leu159=)
NM_003002.4(SDHD):c.479G>A (p.Ter160=)	rs201372601
NM_003002.4(SDHD):c.48C>T (p.Gly16=)	rs1555186688
NM_003002.4(SDHD):c.52+10C>G	rs2135264901
NM_003002.4(SDHD):c.52+11T>A
NM_003002.4(SDHD):c.52+12T>C	rs1865622422
NM_003002.4(SDHD):c.52+13C>T
NM_003002.4(SDHD):c.52+15C>T	rs1486681280
NM_003002.4(SDHD):c.52+17C>G
NM_003002.4(SDHD):c.52+17C>T	rs2135264969
NM_003002.4(SDHD):c.52+18C>T
NM_003002.4(SDHD):c.52+20T>C
NM_003002.4(SDHD):c.52+6G>A	rs1416678757
NM_003002.4(SDHD):c.52+7G>C	rs2135264872
NM_003002.4(SDHD):c.52+8dup	rs2135264855
NM_003002.4(SDHD):c.53-12C>G	rs2135266862
NM_003002.4(SDHD):c.53-12C>T	rs2135266862
NM_003002.4(SDHD):c.53-13A>G
NM_003002.4(SDHD):c.53-14G>A
NM_003002.4(SDHD):c.53-15T>C
NM_003002.4(SDHD):c.53-17A>G	rs1166658454
NM_003002.4(SDHD):c.53-18T>C
NM_003002.4(SDHD):c.53-20C>T
NM_003002.4(SDHD):c.53-5C>T	rs913670110
NM_003002.4(SDHD):c.53-6C>T	rs757454290
NM_003002.4(SDHD):c.53-7T>C
NM_003002.4(SDHD):c.53-8_53-7del	rs765322445
NM_003002.4(SDHD):c.57G>A (p.Leu19=)	rs560625389
NM_003002.4(SDHD):c.58T>C (p.Leu20=)	rs1298878168
NM_003002.4(SDHD):c.60G>A (p.Leu20=)	rs2135266996
NM_003002.4(SDHD):c.69T>A (p.Thr23=)	rs1350100098
NM_003002.4(SDHD):c.69T>G (p.Thr23=)	rs1350100098
NM_003002.4(SDHD):c.6G>A (p.Ala2=)	rs1592777160
NM_003002.4(SDHD):c.72A>C (p.Pro24=)	rs1413100881
NM_003002.4(SDHD):c.75G>A (p.Val25=)
NM_003002.4(SDHD):c.78C>T (p.Val26=)
NM_003002.4(SDHD):c.84T>C (p.Pro28=)	rs2135267119
NM_003002.4(SDHD):c.90T>C (p.His30=)
NM_003002.4(SDHD):c.93C>T (p.Ile31=)	rs766096986
NM_003002.4(SDHD):c.99A>G (p.Ala33=)	rs2135267182
NM_003002.4(SDHD):c.9T>A (p.Val3=)	rs1555186657

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