ClinVar Miner

List of variants reported as pathogenic for achondrogenesis by Invitae

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 152
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HGVS dbSNP gnomAD frequency
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_000112.4(SLC26A2):c.-26+2T>C rs386833492 0.00055
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919 0.00012
NM_000112.4(SLC26A2):c.1994A>C (p.His665Pro) rs141798540 0.00006
NM_000112.4(SLC26A2):c.1639C>T (p.Gln547Ter) rs775143472 0.00003
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs) rs386833497 0.00003
NM_000112.4(SLC26A2):c.2144C>T (p.Ala715Val) rs104893918 0.00003
NM_004239.4(TRIP11):c.81dup (p.Gly28fs) rs779038293 0.00002
NM_000112.4(SLC26A2):c.1343C>G (p.Ser448Ter) rs771098555 0.00001
NM_000112.4(SLC26A2):c.1535C>A (p.Thr512Lys) rs121908078 0.00001
NM_000112.4(SLC26A2):c.1950del (p.Ile651fs) rs774648833 0.00001
NM_000112.4(SLC26A2):c.1982del (p.Thr661fs) rs762137330 0.00001
NM_000112.4(SLC26A2):c.796dup (p.Thr266fs) rs767996373 0.00001
NM_004239.4(TRIP11):c.2557C>T (p.Arg853Ter) rs1053206465 0.00001
NM_004239.4(TRIP11):c.2611C>T (p.Arg871Ter) rs999557873 0.00001
NM_004239.4(TRIP11):c.2782C>T (p.Gln928Ter) rs1257379792 0.00001
NM_004239.4(TRIP11):c.526C>T (p.Arg176Ter) rs758589172 0.00001
NC_000005.9:g.(?_149357216)_(149361376_?)del
NM_000112.4(SLC26A2):c.100del (p.Glu34fs) rs2113695568
NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del) rs121908077
NM_000112.4(SLC26A2):c.104C>G (p.Ser35Ter)
NM_000112.4(SLC26A2):c.1060G>T (p.Glu354Ter) rs1057517532
NM_000112.4(SLC26A2):c.1064_1065insAAAAA (p.Asn355fs) rs2113698201
NM_000112.4(SLC26A2):c.1147_1150del (p.Val382_Ala383insTer) rs1294262903
NM_000112.4(SLC26A2):c.1155del (p.Asp385fs) rs2113698329
NM_000112.4(SLC26A2):c.1157C>T (p.Ala386Val) rs386833493
NM_000112.4(SLC26A2):c.118A>T (p.Lys40Ter)
NM_000112.4(SLC26A2):c.1203_1204insTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATTTTCT (p.Glu402delinsPhePhePhePhePhePheXaaXaaXaaXaaThrGlyPheHisLeuValSerGlnAspGlyLeuAspLeuLeuThrSerTer) rs2113698410
NM_000112.4(SLC26A2):c.1246C>T (p.Gln416Ter) rs2113698485
NM_000112.4(SLC26A2):c.1272dup (p.Asn425Ter) rs2113698511
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp) rs104893920
NM_000112.4(SLC26A2):c.1306del (p.Thr436fs) rs1290183098
NM_000112.4(SLC26A2):c.1336A>T (p.Lys446Ter)
NM_000112.4(SLC26A2):c.1343C>A (p.Ser448Ter)
NM_000112.4(SLC26A2):c.136_137insTT (p.Asp46fs)
NM_000112.4(SLC26A2):c.138dup (p.Gln47fs) rs1755018682
NM_000112.4(SLC26A2):c.1393_1394del (p.Leu465fs) rs386833495
NM_000112.4(SLC26A2):c.1394del (p.Leu465fs) rs386833495
NM_000112.4(SLC26A2):c.1397dup (p.Leu466fs) rs1755088251
NM_000112.4(SLC26A2):c.1421del (p.Leu474fs) rs780990131
NM_000112.4(SLC26A2):c.1428T>G (p.Tyr476Ter)
NM_000112.4(SLC26A2):c.1432del (p.Leu478fs) rs1755089179
NM_000112.4(SLC26A2):c.1441del (p.Ser481fs) rs745774620
NM_000112.4(SLC26A2):c.1441dup (p.Ser481fs) rs745774620
NM_000112.4(SLC26A2):c.1483dup (p.Leu495fs)
NM_000112.4(SLC26A2):c.1487_1488insGGCG (p.Lys497fs) rs2113698812
NM_000112.4(SLC26A2):c.1509_1514del (p.Met504_Trp505del)
NM_000112.4(SLC26A2):c.1514G>A (p.Trp505Ter)
NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs) rs1057517511
NM_000112.4(SLC26A2):c.1592del (p.Leu531fs) rs2113698924
NM_000112.4(SLC26A2):c.15_19del (p.Ser5fs) rs1459144096
NM_000112.4(SLC26A2):c.1625_1650delinsAACACCA (p.Val542fs) rs1755093032
NM_000112.4(SLC26A2):c.1630del (p.Leu544fs)
NM_000112.4(SLC26A2):c.1649del (p.Lys550fs) rs1057517482
NM_000112.4(SLC26A2):c.1655C>A (p.Ser552Ter) rs1755094376
NM_000112.4(SLC26A2):c.1707C>G (p.Tyr569Ter) rs766836061
NM_000112.4(SLC26A2):c.1714del (p.Leu572fs) rs2113699101
NM_000112.4(SLC26A2):c.1720_1721insCTAAGCCAGGCATCAAGATTTTCCGCTTTGTAGCCCCTCTCTACTACAGA (p.Ile574fs)
NM_000112.4(SLC26A2):c.1720del (p.Ile574fs) rs2113699112
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs) rs386833498
NM_000112.4(SLC26A2):c.1764C>A (p.Tyr588Ter) rs1554095364
NM_000112.4(SLC26A2):c.1767C>A (p.Tyr589Ter)
NM_000112.4(SLC26A2):c.1772del (p.Asn591fs) rs2113699214
NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter) rs905644652
NM_000112.4(SLC26A2):c.1796T>A (p.Leu599Ter)
NM_000112.4(SLC26A2):c.1805_1808del (p.Gln602fs)
NM_000112.4(SLC26A2):c.1806_1809del (p.Thr603fs) rs1057517530
NM_000112.4(SLC26A2):c.1810_1811del (p.Val604fs) rs2113699284
NM_000112.4(SLC26A2):c.1817del (p.Pro606fs) rs1554095374
NM_000112.4(SLC26A2):c.1847del (p.Ala616fs)
NM_000112.4(SLC26A2):c.1878del (p.Thr627fs) rs1755100270
NM_000112.4(SLC26A2):c.1926del (p.Leu644fs) rs1481910744
NM_000112.4(SLC26A2):c.1955_1958del (p.Asp652fs) rs1057517474
NM_000112.4(SLC26A2):c.1968del (p.Gln657fs)
NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg) rs1554095397
NM_000112.4(SLC26A2):c.1994dup (p.His665fs) rs2113699563
NM_000112.4(SLC26A2):c.2004_2007del (p.Glu669fs) rs1255552826
NM_000112.4(SLC26A2):c.2017_2018del (p.Asp673fs) rs772515802
NM_000112.4(SLC26A2):c.2085del (p.Asn696fs)
NM_000112.4(SLC26A2):c.2087dup (p.Asn696fs)
NM_000112.4(SLC26A2):c.2088_2089delinsGT (p.Asn696_Gly697delinsLysTer)
NM_000112.4(SLC26A2):c.2095del (p.Tyr699fs)
NM_000112.4(SLC26A2):c.2097T>A (p.Tyr699Ter) rs761932822
NM_000112.4(SLC26A2):c.2109del (p.Glu704fs)
NM_000112.4(SLC26A2):c.2124_2125dup (p.Phe709fs) rs1554095433
NM_000112.4(SLC26A2):c.214A>T (p.Lys72Ter)
NM_000112.4(SLC26A2):c.218del (p.Lys73fs) rs2113695746
NM_000112.4(SLC26A2):c.235C>T (p.Gln79Ter) rs1755020578
NM_000112.4(SLC26A2):c.239_243dup (p.Pro82fs) rs1057517504
NM_000112.4(SLC26A2):c.241del (p.Ser81fs)
NM_000112.4(SLC26A2):c.277del (p.Leu93fs)
NM_000112.4(SLC26A2):c.294G>A (p.Trp98Ter)
NM_000112.4(SLC26A2):c.306C>G (p.Tyr102Ter) rs768809642
NM_000112.4(SLC26A2):c.309_327del (p.Asp103fs)
NM_000112.4(SLC26A2):c.373C>T (p.Gln125Ter)
NM_000112.4(SLC26A2):c.391del (p.Leu131fs) rs786200881
NM_000112.4(SLC26A2):c.399_402dup (p.Gln135fs)
NM_000112.4(SLC26A2):c.426C>A (p.Tyr142Ter)
NM_000112.4(SLC26A2):c.438del (p.Phe146fs) rs769859976
NM_000112.4(SLC26A2):c.438dup (p.Ala147fs) rs769859976
NM_000112.4(SLC26A2):c.451del (p.Tyr151fs) rs786204675
NM_000112.4(SLC26A2):c.485_486del (p.Val162fs) rs763198695
NM_000112.4(SLC26A2):c.55G>T (p.Gly19Ter) rs386833507
NM_000112.4(SLC26A2):c.567dup (p.Ser190Ter)
NM_000112.4(SLC26A2):c.578_581del (p.Pro192_Ser193insTer) rs1554095154
NM_000112.4(SLC26A2):c.58_62dup (p.Asp21fs) rs2113695485
NM_000112.4(SLC26A2):c.695dup (p.Tyr232Ter)
NM_000112.4(SLC26A2):c.697C>T (p.Gln233Ter) rs1429562386
NM_000112.4(SLC26A2):c.69del (p.Pro24fs)
NM_000112.4(SLC26A2):c.705_711del (p.Met236fs) rs386833508
NM_000112.4(SLC26A2):c.736_739del (p.Val246fs) rs1057517524
NM_000112.4(SLC26A2):c.746C>G (p.Ser249Ter) rs1057517514
NM_000112.4(SLC26A2):c.78_88dup (p.Glu30fs) rs2113695509
NM_000112.4(SLC26A2):c.819del (p.Leu275fs) rs750882937
NM_000112.4(SLC26A2):c.840dup (p.Asn281Ter)
NM_000112.4(SLC26A2):c.854C>A (p.Ser285Ter)
NM_000112.4(SLC26A2):c.906_907del (p.Leu302_Cys303insTer) rs386833509
NM_000112.4(SLC26A2):c.909T>A (p.Cys303Ter)
NM_000112.4(SLC26A2):c.916_929dup (p.Cys311fs)
NM_000112.4(SLC26A2):c.922del (p.Ser308fs) rs1057517495
NM_000112.4(SLC26A2):c.925del (p.Leu309fs) rs1554095296
NM_000112.4(SLC26A2):c.961del (p.Leu321fs)
NM_004239.4(TRIP11):c.1280T>A (p.Leu427Ter) rs34761938
NM_004239.4(TRIP11):c.1622dup (p.Arg542fs)
NM_004239.4(TRIP11):c.1938_1941del (p.Arg647fs) rs773312108
NM_004239.4(TRIP11):c.1987dup (p.Gln663fs) rs2140119519
NM_004239.4(TRIP11):c.2123del (p.Asn708fs) rs747106242
NM_004239.4(TRIP11):c.2123dup (p.Asn708fs) rs747106242
NM_004239.4(TRIP11):c.2448dup (p.Ile817fs)
NM_004239.4(TRIP11):c.2467_2470del (p.Arg823fs) rs764561670
NM_004239.4(TRIP11):c.2911dup (p.Thr971fs)
NM_004239.4(TRIP11):c.3104_3105insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGATTAAACTTCT (p.Leu1035_Asn1036insPhePhePhePhePhePheXaaXaaXaaXaaSerThrArgLeuGlyLeuProLysCysTrpAspTyrArgArgGluProProArgProAlaGluIleLysLeuLeu)
NM_004239.4(TRIP11):c.3173del (p.Thr1058fs)
NM_004239.4(TRIP11):c.3268C>T (p.Gln1090Ter)
NM_004239.4(TRIP11):c.3352_3353del (p.Glu1118fs) rs1566859264
NM_004239.4(TRIP11):c.3477del (p.Gln1160fs) rs2056871742
NM_004239.4(TRIP11):c.3507del (p.Asp1170fs)
NM_004239.4(TRIP11):c.3641del (p.Lys1213_Leu1214insTer)
NM_004239.4(TRIP11):c.4432_4433del (p.Glu1478fs)
NM_004239.4(TRIP11):c.4508_4511del (p.Met1503fs)
NM_004239.4(TRIP11):c.4551_4554del (p.Lys1517fs)
NM_004239.4(TRIP11):c.5392C>T (p.Gln1798Ter)
NM_004239.4(TRIP11):c.5519C>G (p.Ser1840Ter)
NM_004239.4(TRIP11):c.617_618del (p.Asn205_Ser206insTer) rs1566867763
NM_004239.4(TRIP11):c.763C>T (p.Arg255Ter) rs2140131376
NM_004239.4(TRIP11):c.774_777del (p.Ser259fs) rs2057028176
NM_004239.4(TRIP11):c.790C>T (p.Arg264Ter) rs267607138
NM_004239.4(TRIP11):c.877dup (p.Thr293fs)
NM_004239.4(TRIP11):c.922del (p.Met308fs) rs780178406
NM_004239.4(TRIP11):c.944_948del (p.Ile315fs)
NM_004239.4(TRIP11):c.988_989del (p.Asp330fs) rs750602133

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