ClinVar Miner

List of variants reported as likely benign for achondrogenesis type IB by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 277
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000112.4(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171 0.00214
NM_000112.4(SLC26A2):c.1046T>A (p.Phe349Tyr) rs114212275 0.00073
NM_000112.4(SLC26A2):c.836G>A (p.Arg279Gln) rs114569184 0.00069
NM_000112.4(SLC26A2):c.893A>G (p.His298Arg) rs115111282 0.00044
NM_000112.4(SLC26A2):c.1234G>A (p.Val412Ile) rs201714602 0.00043
NM_000112.4(SLC26A2):c.695A>T (p.Tyr232Phe) rs75097996 0.00032
NM_000112.4(SLC26A2):c.1081G>A (p.Ala361Thr) rs139051143 0.00026
NM_000112.4(SLC26A2):c.1295A>G (p.His432Arg) rs116443969 0.00026
NM_000112.4(SLC26A2):c.1512G>A (p.Met504Ile) rs76668544 0.00022
NM_000112.4(SLC26A2):c.699+20T>C rs368382498 0.00022
NM_000112.4(SLC26A2):c.474T>C (p.Arg158=) rs374572095 0.00014
NM_000112.4(SLC26A2):c.807C>T (p.Ala269=) rs148445106 0.00014
NM_000112.4(SLC26A2):c.1776A>G (p.Lys592=) rs570536938 0.00013
NM_000112.4(SLC26A2):c.173G>A (p.Arg58His) rs199893058 0.00011
NM_000112.4(SLC26A2):c.1854G>A (p.Lys618=) rs370460064 0.00011
NM_000112.4(SLC26A2):c.196T>C (p.Phe66Leu) rs200981220 0.00010
NM_000112.4(SLC26A2):c.193A>G (p.Asn65Asp) rs755049614 0.00009
NM_000112.4(SLC26A2):c.2129A>G (p.Tyr710Cys) rs374692915 0.00009
NM_000112.4(SLC26A2):c.897G>A (p.Lys299=) rs199635266 0.00009
NM_000112.4(SLC26A2):c.1059T>C (p.His353=) rs114841644 0.00006
NM_000112.4(SLC26A2):c.1194A>T (p.Val398=) rs886038240 0.00005
NM_000112.4(SLC26A2):c.2097T>C (p.Tyr699=) rs761932822 0.00005
NM_000112.4(SLC26A2):c.1170C>T (p.Ser390=) rs757884368 0.00004
NM_000112.4(SLC26A2):c.1938G>A (p.Leu646=) rs767843785 0.00004
NM_000112.4(SLC26A2):c.24A>G (p.Gln8=) rs372345029 0.00003
NM_000112.4(SLC26A2):c.645T>C (p.Ser215=) rs1396953137 0.00003
NM_000112.4(SLC26A2):c.875A>G (p.His292Arg) rs761259326 0.00003
NM_000112.4(SLC26A2):c.993A>C (p.Ala331=) rs772104667 0.00003
NM_000112.4(SLC26A2):c.15T>C (p.Ser5=) rs539335443 0.00002
NM_000112.4(SLC26A2):c.2037C>T (p.Ile679=) rs762132863 0.00002
NM_000112.4(SLC26A2):c.96A>G (p.Gln32=) rs371478671 0.00002
NM_000112.4(SLC26A2):c.1032A>G (p.Thr344=) rs1185306663 0.00001
NM_000112.4(SLC26A2):c.114C>T (p.Asp38=) rs779527254 0.00001
NM_000112.4(SLC26A2):c.1224T>C (p.His408=) rs368695180 0.00001
NM_000112.4(SLC26A2):c.1320T>C (p.Leu440=) rs1384352348 0.00001
NM_000112.4(SLC26A2):c.132C>A (p.Thr44=) rs1202182617 0.00001
NM_000112.4(SLC26A2):c.1405C>T (p.Leu469=) rs1326501763 0.00001
NM_000112.4(SLC26A2):c.1476G>C (p.Arg492=) rs758441320 0.00001
NM_000112.4(SLC26A2):c.1497G>A (p.Arg499=) rs1755090535 0.00001
NM_000112.4(SLC26A2):c.1605T>C (p.Val535=) rs1364454145 0.00001
NM_000112.4(SLC26A2):c.1680T>C (p.Ser560=) rs921384755 0.00001
NM_000112.4(SLC26A2):c.1719G>A (p.Gln573=) rs1755095360 0.00001
NM_000112.4(SLC26A2):c.1779A>G (p.Glu593=) rs746558702 0.00001
NM_000112.4(SLC26A2):c.204G>A (p.Glu68=) rs754399633 0.00001
NM_000112.4(SLC26A2):c.2145G>A (p.Ala715=) rs886060225 0.00001
NM_000112.4(SLC26A2):c.2190T>A (p.Val730=) rs1256171696 0.00001
NM_000112.4(SLC26A2):c.21G>A (p.Glu7=) rs768964077 0.00001
NM_000112.4(SLC26A2):c.306C>T (p.Tyr102=) rs768809642 0.00001
NM_000112.4(SLC26A2):c.30C>T (p.Asn10=) rs532261155 0.00001
NM_000112.4(SLC26A2):c.439G>T (p.Ala147Ser) rs201012489 0.00001
NM_000112.4(SLC26A2):c.459C>G (p.Leu153=) rs1370822641 0.00001
NM_000112.4(SLC26A2):c.502C>T (p.Leu168=) rs745566850 0.00001
NM_000112.4(SLC26A2):c.525A>G (p.Thr175=) rs1755029554 0.00001
NM_000112.4(SLC26A2):c.696T>C (p.Tyr232=) rs1039294894 0.00001
NM_000112.4(SLC26A2):c.700-15T>C rs1224222753 0.00001
NM_000112.4(SLC26A2):c.705G>A (p.Ala235=) rs112360373 0.00001
NM_000112.4(SLC26A2):c.756G>A (p.Leu252=) rs138717538 0.00001
NM_000112.4(SLC26A2):c.81C>T (p.Ile27=) rs387907491 0.00001
NM_000112.4(SLC26A2):c.855A>C (p.Ser285=) rs769248385 0.00001
NM_000112.4(SLC26A2):c.858C>T (p.Leu286=) rs748677654 0.00001
NM_000112.4(SLC26A2):c.882C>T (p.Phe294=) rs368422840 0.00001
NM_000112.4(SLC26A2):c.903T>C (p.Asn301=) rs754890390 0.00001
NM_000112.4(SLC26A2):c.924C>T (p.Ser308=) rs767409327 0.00001
NM_000112.4(SLC26A2):c.996G>A (p.Pro332=) rs376300575 0.00001
NM_000112.4(SLC26A2):c.1011T>G (p.Leu337=)
NM_000112.4(SLC26A2):c.1017T>C (p.Val339=) rs755813228
NM_000112.4(SLC26A2):c.1020T>C (p.Val340=)
NM_000112.4(SLC26A2):c.1023A>G (p.Val341=) rs756825639
NM_000112.4(SLC26A2):c.1038C>T (p.Ala346=) rs1581231895
NM_000112.4(SLC26A2):c.1053A>G (p.Lys351=)
NM_000112.4(SLC26A2):c.1054C>T (p.Leu352=)
NM_000112.4(SLC26A2):c.105A>G (p.Ser35=) rs765269781
NM_000112.4(SLC26A2):c.105A>T (p.Ser35=) rs765269781
NM_000112.4(SLC26A2):c.1086A>G (p.Gly362=)
NM_000112.4(SLC26A2):c.1098T>C (p.Thr366=) rs146912557
NM_000112.4(SLC26A2):c.1101G>A (p.Gly367=)
NM_000112.4(SLC26A2):c.1119A>T (p.Val373=) rs1561822062
NM_000112.4(SLC26A2):c.1125A>G (p.Glu375=) rs2113698285
NM_000112.4(SLC26A2):c.1131C>T (p.Asn377=) rs2113698293
NM_000112.4(SLC26A2):c.1158A>G (p.Ala386=) rs2113698338
NM_000112.4(SLC26A2):c.117C>T (p.Phe39=) rs376023150
NM_000112.4(SLC26A2):c.1188C>T (p.Ile396=) rs1755082955
NM_000112.4(SLC26A2):c.1197A>G (p.Ser399=)
NM_000112.4(SLC26A2):c.1227T>A (p.Gly409=) rs2113698437
NM_000112.4(SLC26A2):c.1230C>T (p.Tyr410=)
NM_000112.4(SLC26A2):c.1245C>T (p.Asn415=) rs2113698482
NM_000112.4(SLC26A2):c.1257T>C (p.Tyr419=)
NM_000112.4(SLC26A2):c.1269T>C (p.Phe423=)
NM_000112.4(SLC26A2):c.1284T>G (p.Pro428=)
NM_000112.4(SLC26A2):c.12A>G (p.Glu4=) rs2113695425
NM_000112.4(SLC26A2):c.1305T>C (p.Thr435=)
NM_000112.4(SLC26A2):c.132C>G (p.Thr44=) rs1202182617
NM_000112.4(SLC26A2):c.1330T>C (p.Leu444=)
NM_000112.4(SLC26A2):c.1332G>A (p.Leu444=)
NM_000112.4(SLC26A2):c.1341A>G (p.Glu447=)
NM_000112.4(SLC26A2):c.1353C>T (p.Cys451=)
NM_000112.4(SLC26A2):c.1362G>A (p.Gln454=) rs2113698636
NM_000112.4(SLC26A2):c.1365T>C (p.Leu455=)
NM_000112.4(SLC26A2):c.1374G>A (p.Val458=)
NM_000112.4(SLC26A2):c.1384C>T (p.Leu462=)
NM_000112.4(SLC26A2):c.1386G>C (p.Leu462=)
NM_000112.4(SLC26A2):c.1386G>T (p.Leu462=)
NM_000112.4(SLC26A2):c.1395G>A (p.Leu465=) rs1456276336
NM_000112.4(SLC26A2):c.1398G>A (p.Leu466=)
NM_000112.4(SLC26A2):c.1401C>T (p.Val467=)
NM_000112.4(SLC26A2):c.1407A>G (p.Leu469=) rs2113698698
NM_000112.4(SLC26A2):c.1407A>T (p.Leu469=) rs2113698698
NM_000112.4(SLC26A2):c.1416T>A (p.Ala472=)
NM_000112.4(SLC26A2):c.141A>G (p.Gln47=) rs1194896006
NM_000112.4(SLC26A2):c.1437A>G (p.Gln479=)
NM_000112.4(SLC26A2):c.1446C>T (p.Val482=)
NM_000112.4(SLC26A2):c.144C>T (p.Cys48=)
NM_000112.4(SLC26A2):c.1452T>C (p.Gly484=)
NM_000112.4(SLC26A2):c.1458C>A (p.Ile486=)
NM_000112.4(SLC26A2):c.1473A>G (p.Leu491=)
NM_000112.4(SLC26A2):c.1494T>C (p.Phe498=)
NM_000112.4(SLC26A2):c.1506C>A (p.Pro502=)
NM_000112.4(SLC26A2):c.1506C>G (p.Pro502=)
NM_000112.4(SLC26A2):c.1542C>T (p.Ile514=)
NM_000112.4(SLC26A2):c.1551T>A (p.Val517=) rs368016373
NM_000112.4(SLC26A2):c.1551T>C (p.Val517=) rs368016373
NM_000112.4(SLC26A2):c.1554T>G (p.Thr518=)
NM_000112.4(SLC26A2):c.1558C>T (p.Leu520=)
NM_000112.4(SLC26A2):c.1569A>G (p.Ala523=)
NM_000112.4(SLC26A2):c.1575A>G (p.Leu525=)
NM_000112.4(SLC26A2):c.159G>A (p.Arg53=) rs766615254
NM_000112.4(SLC26A2):c.1629C>T (p.Ile543=)
NM_000112.4(SLC26A2):c.162C>T (p.Ile54=)
NM_000112.4(SLC26A2):c.1632C>A (p.Leu544=)
NM_000112.4(SLC26A2):c.1632C>G (p.Leu544=) rs1581232304
NM_000112.4(SLC26A2):c.1641G>A (p.Gln547=)
NM_000112.4(SLC26A2):c.1644G>A (p.Lys548=) rs2113699019
NM_000112.4(SLC26A2):c.1656A>G (p.Ser552=)
NM_000112.4(SLC26A2):c.165T>C (p.Leu55=)
NM_000112.4(SLC26A2):c.1698G>A (p.Val566=) rs953899172
NM_000112.4(SLC26A2):c.171G>A (p.Glu57=) rs2113695676
NM_000112.4(SLC26A2):c.1728A>G (p.Pro576=)
NM_000112.4(SLC26A2):c.1731C>A (p.Gly577=)
NM_000112.4(SLC26A2):c.1731C>T (p.Gly577=)
NM_000112.4(SLC26A2):c.1740T>C (p.Ile580=) rs2113699146
NM_000112.4(SLC26A2):c.1761C>G (p.Leu587=) rs745590895
NM_000112.4(SLC26A2):c.1767C>T (p.Tyr589=) rs2113699208
NM_000112.4(SLC26A2):c.1773C>T (p.Asn591=) rs2113699222
NM_000112.4(SLC26A2):c.177A>G (p.Gln59=) rs2113695687
NM_000112.4(SLC26A2):c.1782C>T (p.Cys594=)
NM_000112.4(SLC26A2):c.1785T>C (p.Phe595=)
NM_000112.4(SLC26A2):c.1788A>G (p.Lys596=) rs776206829
NM_000112.4(SLC26A2):c.1797A>G (p.Leu599=)
NM_000112.4(SLC26A2):c.1806A>G (p.Gln602=)
NM_000112.4(SLC26A2):c.1809T>C (p.Thr603=)
NM_000112.4(SLC26A2):c.1818A>C (p.Pro606=)
NM_000112.4(SLC26A2):c.1818A>G (p.Pro606=)
NM_000112.4(SLC26A2):c.1833G>A (p.Val611=)
NM_000112.4(SLC26A2):c.1833G>T (p.Val611=) rs2113699327
NM_000112.4(SLC26A2):c.1851A>G (p.Ala617=)
NM_000112.4(SLC26A2):c.1872A>G (p.Lys624=) rs2113699382
NM_000112.4(SLC26A2):c.1878G>A (p.Val626=)
NM_000112.4(SLC26A2):c.1908A>G (p.Ser636=)
NM_000112.4(SLC26A2):c.1936C>T (p.Leu646=)
NM_000112.4(SLC26A2):c.1944T>C (p.Thr648=)
NM_000112.4(SLC26A2):c.1947A>C (p.Ile649=)
NM_000112.4(SLC26A2):c.1950G>A (p.Val650=)
NM_000112.4(SLC26A2):c.1959C>T (p.Cys653=)
NM_000112.4(SLC26A2):c.1962T>C (p.Ser654=) rs766291194
NM_000112.4(SLC26A2):c.1971A>G (p.Gln657=)
NM_000112.4(SLC26A2):c.1980T>C (p.Asp660=) rs2113699529
NM_000112.4(SLC26A2):c.1989G>A (p.Gly663=) rs1228064118
NM_000112.4(SLC26A2):c.1992C>T (p.Ile664=)
NM_000112.4(SLC26A2):c.1995C>T (p.His665=)
NM_000112.4(SLC26A2):c.1998A>C (p.Thr666=)
NM_000112.4(SLC26A2):c.1999C>T (p.Leu667=) rs1180249974
NM_000112.4(SLC26A2):c.2004A>G (p.Lys668=) rs2113699583
NM_000112.4(SLC26A2):c.2013C>T (p.Arg671=)
NM_000112.4(SLC26A2):c.2025A>G (p.Glu675=) rs1300640507
NM_000112.4(SLC26A2):c.2034A>G (p.Gly678=)
NM_000112.4(SLC26A2):c.2049G>T (p.Leu683=) rs2113699646
NM_000112.4(SLC26A2):c.2055G>A (p.Gln685=) rs2113699656
NM_000112.4(SLC26A2):c.2064C>G (p.Pro688=)
NM_000112.4(SLC26A2):c.2067T>C (p.Thr689=) rs1031947295
NM_000112.4(SLC26A2):c.2080C>T (p.Leu694=)
NM_000112.4(SLC26A2):c.2085C>G (p.Thr695=) rs1380563081
NM_000112.4(SLC26A2):c.2088C>T (p.Asn696=) rs780668685
NM_000112.4(SLC26A2):c.2100C>T (p.Cys700=) rs770187272
NM_000112.4(SLC26A2):c.210T>A (p.Val70=) rs2113695741
NM_000112.4(SLC26A2):c.2124C>T (p.Leu708=)
NM_000112.4(SLC26A2):c.2127C>T (p.Phe709=)
NM_000112.4(SLC26A2):c.2130T>C (p.Tyr710=)
NM_000112.4(SLC26A2):c.2136G>A (p.Val712=)
NM_000112.4(SLC26A2):c.216A>G (p.Lys72=) rs1755020230
NM_000112.4(SLC26A2):c.2181A>T (p.Gly727=) rs1755110758
NM_000112.4(SLC26A2):c.2193C>T (p.Pro731=) rs2113699885
NM_000112.4(SLC26A2):c.228G>A (p.Lys76=) rs2113695768
NM_000112.4(SLC26A2):c.243T>C (p.Ser81=)
NM_000112.4(SLC26A2):c.246A>G (p.Pro82=) rs1755020721
NM_000112.4(SLC26A2):c.255C>A (p.Ala85=) rs2113695792
NM_000112.4(SLC26A2):c.261T>C (p.Asn87=) rs2113695802
NM_000112.4(SLC26A2):c.276C>T (p.Phe92=)
NM_000112.4(SLC26A2):c.279T>C (p.Leu93=) rs2113695822
NM_000112.4(SLC26A2):c.291G>A (p.Gln97=)
NM_000112.4(SLC26A2):c.297C>A (p.Leu99=) rs2113695846
NM_000112.4(SLC26A2):c.310C>T (p.Leu104=) rs773000413
NM_000112.4(SLC26A2):c.315G>A (p.Lys105=) rs1315598449
NM_000112.4(SLC26A2):c.321C>T (p.Asn107=) rs1755022549
NM_000112.4(SLC26A2):c.327A>G (p.Leu109=)
NM_000112.4(SLC26A2):c.354G>T (p.Val118=)
NM_000112.4(SLC26A2):c.364T>C (p.Leu122=) rs2113695923
NM_000112.4(SLC26A2):c.372C>G (p.Pro124=)
NM_000112.4(SLC26A2):c.375G>A (p.Gln125=)
NM_000112.4(SLC26A2):c.378C>G (p.Ser126=)
NM_000112.4(SLC26A2):c.384T>A (p.Ala128=)
NM_000112.4(SLC26A2):c.390C>G (p.Ser130=)
NM_000112.4(SLC26A2):c.390C>T (p.Ser130=) rs1304914344
NM_000112.4(SLC26A2):c.393G>C (p.Leu131=)
NM_000112.4(SLC26A2):c.402C>T (p.Gly134=)
NM_000112.4(SLC26A2):c.411T>G (p.Pro137=)
NM_000112.4(SLC26A2):c.414C>A (p.Val138=)
NM_000112.4(SLC26A2):c.420T>C (p.Gly140=)
NM_000112.4(SLC26A2):c.421C>T (p.Leu141=) rs1755026916
NM_000112.4(SLC26A2):c.423G>A (p.Leu141=) rs536620072
NM_000112.4(SLC26A2):c.426C>T (p.Tyr142=) rs2113695999
NM_000112.4(SLC26A2):c.429A>T (p.Thr143=)
NM_000112.4(SLC26A2):c.441C>G (p.Ala147=)
NM_000112.4(SLC26A2):c.480C>A (p.Ile160=)
NM_000112.4(SLC26A2):c.51T>C (p.Ala17=)
NM_000112.4(SLC26A2):c.51T>G (p.Ala17=) rs369248348
NM_000112.4(SLC26A2):c.534A>G (p.Arg178=)
NM_000112.4(SLC26A2):c.540A>G (p.Leu180=)
NM_000112.4(SLC26A2):c.552C>G (p.Gly184=)
NM_000112.4(SLC26A2):c.558C>T (p.Asp186=)
NM_000112.4(SLC26A2):c.573T>C (p.Ala191=) rs137932620
NM_000112.4(SLC26A2):c.573T>G (p.Ala191=) rs137932620
NM_000112.4(SLC26A2):c.57A>G (p.Gly19=) rs2113695489
NM_000112.4(SLC26A2):c.600G>A (p.Gly200=) rs1301316751
NM_000112.4(SLC26A2):c.627C>T (p.Asp209=)
NM_000112.4(SLC26A2):c.630G>A (p.Arg210=)
NM_000112.4(SLC26A2):c.636T>C (p.Cys212=) rs2113696306
NM_000112.4(SLC26A2):c.651T>C (p.Tyr217=)
NM_000112.4(SLC26A2):c.672T>C (p.Thr224=)
NM_000112.4(SLC26A2):c.678C>A (p.Thr226=) rs890587176
NM_000112.4(SLC26A2):c.687T>G (p.Ala229=)
NM_000112.4(SLC26A2):c.699+15A>G
NM_000112.4(SLC26A2):c.699+17C>T
NM_000112.4(SLC26A2):c.69T>C (p.Tyr23=)
NM_000112.4(SLC26A2):c.700-12C>A
NM_000112.4(SLC26A2):c.700-14A>G
NM_000112.4(SLC26A2):c.700-16A>G
NM_000112.4(SLC26A2):c.700-18C>T
NM_000112.4(SLC26A2):c.700-8C>T
NM_000112.4(SLC26A2):c.72A>C (p.Pro24=) rs759789848
NM_000112.4(SLC26A2):c.72A>G (p.Pro24=)
NM_000112.4(SLC26A2):c.732T>C (p.Val244=) rs2113697643
NM_000112.4(SLC26A2):c.750T>C (p.Asp250=) rs1180284436
NM_000112.4(SLC26A2):c.759G>A (p.Leu253=) rs2113697685
NM_000112.4(SLC26A2):c.75T>A (p.Ser25=)
NM_000112.4(SLC26A2):c.75T>C (p.Ser25=) rs1755017011
NM_000112.4(SLC26A2):c.765A>C (p.Gly255=) rs1755070961
NM_000112.4(SLC26A2):c.771C>T (p.Val257=) rs2113697700
NM_000112.4(SLC26A2):c.774T>C (p.Thr258=) rs2113697701
NM_000112.4(SLC26A2):c.777T>G (p.Gly259=) rs2113697709
NM_000112.4(SLC26A2):c.786C>T (p.Phe262=) rs1581231627
NM_000112.4(SLC26A2):c.78G>T (p.Gly26=)
NM_000112.4(SLC26A2):c.795T>C (p.Leu265=)
NM_000112.4(SLC26A2):c.810G>A (p.Lys270=) rs753179470
NM_000112.4(SLC26A2):c.837G>T (p.Arg279=) rs1755073343
NM_000112.4(SLC26A2):c.846T>C (p.Gly282=)
NM_000112.4(SLC26A2):c.858C>A (p.Leu286=)
NM_000112.4(SLC26A2):c.864T>C (p.Thr288=)
NM_000112.4(SLC26A2):c.867C>G (p.Thr289=) rs1755075168
NM_000112.4(SLC26A2):c.876T>C (p.His292=) rs1581231740
NM_000112.4(SLC26A2):c.888C>T (p.Asn296=)
NM_000112.4(SLC26A2):c.90A>G (p.Glu30=)
NM_000112.4(SLC26A2):c.933C>T (p.Cys311=)
NM_000112.4(SLC26A2):c.93T>A (p.Leu31=)
NM_000112.4(SLC26A2):c.951A>G (p.Pro317=)
NM_000112.4(SLC26A2):c.963C>T (p.Leu321=)
NM_000112.4(SLC26A2):c.984G>A (p.Lys328=)
NM_000112.4(SLC26A2):c.987T>A (p.Leu329=) rs116302615

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