ClinVar Miner

List of variants reported as pathogenic for multiple epiphyseal dysplasia

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 185
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HGVS dbSNP gnomAD frequency
NM_002381.5(MATN3):c.908C>T (p.Thr303Met) rs77245812 0.01128
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_000112.4(SLC26A2):c.-26+2T>C rs386833492 0.00055
NM_001851.6(COL9A1):c.876+2dup rs672601329 0.00030
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_001851.6(COL9A1):c.876+2T>A rs149830493 0.00013
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919 0.00012
NM_002381.5(MATN3):c.209G>A (p.Arg70His) rs104893640 0.00012
NM_000112.4(SLC26A2):c.1994A>C (p.His665Pro) rs141798540 0.00006
NM_001159773.2(CANT1):c.228dup (p.Trp77fs) rs587776896 0.00006
NM_198525.3(KIF7):c.2896_2897del (p.Ala966fs) rs752248403 0.00006
NM_000112.4(SLC26A2):c.700-1G>C rs200963884 0.00005
NM_001159773.2(CANT1):c.676G>A (p.Val226Met) rs377546036 0.00004
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_001852.4(COL9A2):c.186G>A (p.Pro62=) rs1085307973 0.00003
NM_002381.5(MATN3):c.656C>A (p.Ala219Asp) rs28939677 0.00003
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_001159773.2(CANT1):c.511A>T (p.Ile171Phe) rs1014317450 0.00001
NM_001159773.2(CANT1):c.836-9G>A rs538543007 0.00001
NM_001844.5(COL2A1):c.3508G>A (p.Gly1170Ser) rs121912891 0.00001
NM_198525.3(KIF7):c.1019dup (p.Asn341fs) rs1964065704 0.00001
NM_198525.3(KIF7):c.67C>T (p.Arg23Ter) rs1235928535 0.00001
NC_000002.12:g.19998776_20009244dup
NC_000005.9:g.(?_149357216)_(149361376_?)del
NM_000088.4(COL1A1):c.2029-1G>T rs1201602830
NM_000095.3(COMP):c.1153G>A (p.Asp385Asn) rs1601054715
NM_000095.3(COMP):c.1153G>T (p.Asp385Tyr) rs1601054715
NM_000095.3(COMP):c.1359del (p.Asn453fs)
NM_000095.3(COMP):c.1405GAC[4] (p.Asp473del) rs193922900
NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup) rs193922900
NM_000095.3(COMP):c.1569C>G (p.Asn523Lys) rs137852654
NM_000095.3(COMP):c.1754C>G (p.Thr585Arg) rs312262900
NM_000095.3(COMP):c.2152C>T (p.Arg718Trp) rs28936368
NM_000095.3(COMP):c.2156G>A (p.Gly719Asp) rs137852655
NM_000095.3(COMP):c.2223dup (p.Asn742fs) rs869320730
NM_000095.3(COMP):c.874T>C (p.Cys292Arg) rs2055184939
NM_000095.3(COMP):c.886C>T (p.Pro296Ser) rs749583854
NM_000095.3(COMP):c.976G>A (p.Asp326Asn) rs2145902345
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.1535_1536del (p.Thr512fs)
NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs) rs1057517511
NM_000112.4(SLC26A2):c.1565C>T (p.Ser522Phe) rs1561822760
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.1691_1698dup (p.Ser567fs)
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.1768_1769insGACTAAGCCAGGCATCAAGATTTTCCGCTTTGTAGCCCCTCTCTACTACA (p.Ile590delinsArgLeuSerGlnAlaSerArgPheSerAlaLeuTer)
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.347del (p.Gly115_Leu116insTer)
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.699+2T>C rs1057517461
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.822del (p.Leu275fs)
NM_000112.4(SLC26A2):c.840dup (p.Asn281Ter)
NM_000112.4(SLC26A2):c.854C>A (p.Ser285Ter)
NM_000112.4(SLC26A2):c.874_875dup (p.Val293fs)
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_001844.5(COL2A1):c.1023+1G>C rs886043794
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser) rs121912880
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
NM_001844.5(COL2A1):c.1A>G (p.Met1Val) rs2136652928
NM_001844.5(COL2A1):c.2131G>A (p.Gly711Ser)
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) rs794727261
NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys) rs121912882
NM_001844.5(COL2A1):c.2858del (p.Pro953fs) rs2136527926
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_001844.5(COL2A1):c.3040G>A (p.Gly1014Arg)
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser) rs2136522964
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val) rs1555168505
NM_001851.6(COL9A1):c.14G>A (p.Trp5Ter) rs770789859
NM_001852.4(COL9A2):c.1506del (p.Asn503fs) rs1040081238
NM_001852.4(COL9A2):c.186+2T>C rs1569763139
NM_001852.4(COL9A2):c.186+5G>C rs1569763108
NM_001852.4(COL9A2):c.186G>C (p.Pro62=) rs1085307973
NM_001853.4(COL9A3):c.148-1G>A rs606231367
NM_001853.4(COL9A3):c.148-2A>G
NM_001853.4(COL9A3):c.148-2A>T rs1600786629
NM_001853.4(COL9A3):c.183+2T>C rs2147195552
NM_001853.4(COL9A3):c.183+5G>A rs1600786748
NM_001853.4(COL9A3):c.369+2T>C rs1057518693
NM_002381.5(MATN3):c.359C>T (p.Thr120Met) rs397515546
NM_002381.5(MATN3):c.361C>T (p.Arg121Trp) rs104893637
NM_002381.5(MATN3):c.382G>C (p.Ala128Pro) rs104893641
NM_002381.5(MATN3):c.581T>A (p.Val194Asp) rs104893645
NM_198525.3(KIF7):c.2560_2570del (p.Ala854fs) rs762662896
NM_198525.3(KIF7):c.3179A>G (p.Asn1060Ser) rs886039282

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