ClinVar Miner

List of variants reported by Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital

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ClinVar version:
Total variants: 154
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HGVS dbSNP gnomAD frequency
NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser) rs117134265 0.00019
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_004560.4(ROR2):c.2117G>A (p.Arg706Gln) rs369717474 0.00013
NM_004560.4(ROR2):c.1930G>A (p.Asp644Asn) rs55798732 0.00011
NM_004608.4(TBX6):c.434C>T (p.Pro145Leu) rs202193096 0.00010
NM_004560.4(ROR2):c.935G>A (p.Arg312His) rs188376581 0.00007
NM_004608.4(TBX6):c.356G>A (p.Arg119His) rs200175825 0.00007
NM_004560.4(ROR2):c.2212C>T (p.Arg738Cys) rs56231927 0.00006
NM_004608.4(TBX6):c.1112C>T (p.Pro371Leu) rs749373395 0.00006
NM_017563.5(IL17RD):c.676G>A (p.Gly226Ser) rs577890523 0.00006
NM_004608.4(TBX6):c.700G>C (p.Gly234Arg) rs376817900 0.00004
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_004608.4(TBX6):c.1133G>A (p.Arg378His) rs756921502 0.00003
NM_001395002.1(MAP4K4):c.1694G>A (p.Arg565Gln) rs781410462 0.00002
NM_002470.4(MYH3):c.1002+1G>A rs150951216 0.00002
NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val) rs80053154 0.00001
NM_000306.4(POU1F1):c.212C>T (p.Ala71Val) rs771947200 0.00001
NM_000306.4(POU1F1):c.649C>T (p.Arg217Ter) rs761275346 0.00001
NM_000515.5(GH1):c.626G>A (p.Arg209His) rs137853223 0.00001
NM_000823.4(GHRHR):c.731G>A (p.Trp244Ter) rs1049885467 0.00001
NM_002470.4(MYH3):c.4357-10G>A rs374066994 0.00001
NM_002755.4(MAP2K1):c.427A>G (p.Met143Val) rs533695080 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_004560.4(ROR2):c.302C>T (p.Pro101Leu) rs370882834 0.00001
NM_004560.4(ROR2):c.769G>A (p.Glu257Lys) rs543118807 0.00001
NM_004608.4(TBX6):c.499C>T (p.Arg167Cys) rs760006939 0.00001
NM_014780.5(CUL7):c.4763T>C (p.Leu1588Pro) rs759300846 0.00001
NM_015338.6(ASXL1):c.643G>A (p.Ala215Thr) rs2011469389 0.00001
NM_024870.4(PREX2):c.3355G>A (p.Ala1119Thr) rs778089198 0.00001
NC_000015.10:g.48465619_48465620delinsCA rs1566903931
NM_000054.7(AVPR2):c.809_810del (p.Val270fs) rs2064966689
NM_000057.4(BLM):c.[1544dup;2468del]
NM_000057.4(BLM):c.[2265_2268dup;2441T>A]
NM_000057.4(BLM):c.[289C>T;649C>T]
NM_000095.3(COMP):c.1153G>T (p.Asp385Tyr) rs1601054715
NM_000095.3(COMP):c.1210G>A (p.Gly404Arg) rs2055168912
NM_000124.4(ERCC6):c.[1727C>G;1834C>T]
NM_000127.3(EXT1):c.1019G>A (p.Arg340His) rs119103287
NM_000138.5(FBN1):c.1456G>T (p.Gly486Trp) rs1597580915
NM_000138.5(FBN1):c.1571C>A (p.Thr524Lys) rs370575495
NM_000138.5(FBN1):c.2613A>C (p.Leu871Phe) rs770290542
NM_000138.5(FBN1):c.2649G>A (p.Trp883Ter) rs1597568822
NM_000138.5(FBN1):c.284C>G (p.Ser95Trp) rs922684362
NM_000138.5(FBN1):c.3437T>G (p.Leu1146Arg) rs758018009
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val) rs1131691804
NM_000138.5(FBN1):c.6440G>A (p.Gly2147Asp) rs1597525958
NM_000138.5(FBN1):c.6825C>G (p.Ile2275Met) rs1597520637
NM_000138.5(FBN1):c.7785del (p.Tyr2596fs) rs1566891406
NM_000138.5(FBN1):c.8275_8291del (p.Glu2759fs) rs1566888718
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1259del (p.Pro420fs) rs2089307675
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) rs199422227
NM_000362.5(TIMP3):c.311T>C (p.Leu104Pro) rs1555985260
NM_000441.2(SLC26A4):c.[2168A>G;2326C>G]
NM_000444.6(PHEX):c.58C>T (p.Arg20Ter) rs770573978
NM_000444.6(PHEX):c.613del (p.Arg205fs) rs1929214770
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter) rs866429868
NM_000475.5(NR0B1):c.273C>A (p.Tyr91Ter) rs104894892
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter) rs1131691564
NM_000486.6(AQP2):c.3G>T (p.Met1Ile) rs1288385043
NM_000493.4(COL10A1):c.1843T>G (p.Tyr615Asp) rs1779072705
NM_000512.5(GALNS):c.[1097T>C;451C>A]
NM_000515.5(GH1):c.131A>C (p.His44Pro) rs754126557
NM_000823.4(GHRHR):c.[1102C>T;481C>T]
NM_000875.5(IGF1R):c.1732G>A (p.Ala578Thr) rs2015098252
NM_001011658.4(TRAPPC2):c.324+1G>T rs2046279070
NM_001042492.3(NF1):c.1639G>T (p.Glu547Ter) rs2066877587
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.503C>G (p.Ser168Ter) rs1131691994
NM_001042492.3(NF1):c.61-2A>C rs1131691100
NM_001042492.3(NF1):c.6705-1G>A rs1060500356
NM_001042492.3(NF1):c.7194C>G (p.Tyr2398Ter) rs2070073649
NM_001080517.3(SETD5):c.1702_1703insT (p.Ser568fs) rs2042123799
NM_001099274.3(TINF2):c.1292del (p.Pro431fs) rs770529422
NM_001114753.3(ENG):c.920dup (p.Asn307fs) rs1554810174
NM_001197104.2(KMT2A):c.8767_8768del (p.Gln2923fs) rs1950551811
NM_001284236.3(ZFYVE16):c.3442G>T (p.Asp1148Tyr) rs1554047435
NM_001367977.2(SCUBE2):c.2057G>A (p.Cys686Tyr) rs1555238867
NM_001369268.1(ACAN):c.1120_1123del (p.Gln373_Thr374insTer) rs1896771746
NM_001369268.1(ACAN):c.1861A>T (p.Lys621Ter) rs1896882552
NM_001369268.1(ACAN):c.1880_1883dup (p.Asp629fs) rs1896883106
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp) rs797044854
NM_001374828.1(ARID1B):c.7052C>G (p.Ser2351Ter) rs1794583960
NM_001378183.1(PIEZO2):c.771G>A (p.Trp257Ter) rs2041679279
NM_001792.5(CDH2):c.2075A>G (p.Asn692Ser) rs1555630396
NM_001844.5(COL2A1):c.1393G>A (p.Gly465Ser) rs1939445848
NM_001844.5(COL2A1):c.2860G>A (p.Gly954Ser) rs1938864270
NM_001854.4(COL11A1):c.2508dup (p.Leu837fs) rs1663313424
NM_001854.4(COL11A1):c.3816+1G>A rs398122828
NM_002427.4(MMP13):c.223T>C (p.Phe75Leu) rs1301955422
NM_002470.4(MYH3):c.1400A>C (p.Glu467Ala) rs2142407941
NM_002470.4(MYH3):c.3062del (p.Ser1020_Leu1021insTer) rs2142398204
NM_002470.4(MYH3):c.3661_3663del (p.Glu1221del) rs2142395080
NM_002470.4(MYH3):c.4000del (p.Leu1334fs) rs2142390113
NM_002470.4(MYH3):c.4244T>G (p.Leu1415Arg) rs2142388822
NM_002470.4(MYH3):c.5220_5223del (p.Ser1740fs) rs2142381440
NM_002470.4(MYH3):c.5658+3_5658+6del rs2142377032
NM_002470.4(MYH3):c.841G>A (p.Glu281Lys) rs2142413627
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_003560.4(PLA2G6):c.[2356G>A;668C>A]
NM_003611.3(OFD1):c.2289dup (p.Ser764fs) rs2047910158
NM_003849.4(SUCLG1):c.[460C>T;987dup]
NM_003982.4(SLC7A7):c.[1228C>T;1387del]
NM_003995.4(NPR2):c.1249C>A (p.Gln417Lys) rs796065356
NM_003995.4(NPR2):c.2299C>T (p.Arg767Ter) rs753472316
NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter) rs398124074
NM_004153.4(ORC1):c.[2483C>T;2484del]
NM_004260.4(RECQL4):c.[1724_1725del;691G>A]
NM_004369.4(COL6A3):c.6210+1G>A rs398124126
NM_004560.4(ROR2):c.2014G>A (p.Asp672Asn) rs55651110
NM_004560.4(ROR2):c.2236C>T (p.Leu746Phe) rs1836916811
NM_004560.4(ROR2):c.2625dup (p.Thr876fs) rs1836888405
NM_004560.4(ROR2):c.553T>C (p.Phe185Leu) rs1825070299
NM_004608.4(TBX6):c.1184G>A (p.Gly395Asp) rs1596847759
NM_004608.4(TBX6):c.1300C>T (p.Pro434Ser) rs1200121314
NM_004608.4(TBX6):c.418C>T (p.Leu140Phe) rs1596853085
NM_004608.4(TBX6):c.424G>T (p.Asp142Tyr) rs1596853067
NM_004608.4(TBX6):c.440A>T (p.Asp147Val) rs1596853022
NM_004608.4(TBX6):c.473_475dup (p.Trp158_Glu159insGly) rs1596852902
NM_004608.4(TBX6):c.929C>T (p.Pro310Leu) rs1596848757
NM_005228.5(EGFR):c.1881-858G>T rs909905659
NM_006513.4(SARS1):c.971T>C (p.Ile324Thr) rs1553178399
NM_006565.4(CTCF):c.329dup (p.Gly111fs) rs2052056650
NM_006662.3(SRCAP):c.7189G>T (p.Glu2397Ter) rs2053169420
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_006939.4(SOS2):c.800T>A (p.Met267Lys) rs797045167
NM_012448.4(STAT5B):c.1102del (p.Gln368fs) rs761761205
NM_013275.6(ANKRD11):c.3309del (p.Asp1104fs) rs772267579
NM_013275.6(ANKRD11):c.4750G>T (p.Glu1584Ter) rs2034272227
NM_014112.5(TRPS1):c.94C>T (p.Gln32Ter) rs1818358114
NM_014319.5(LEMD3):c.2639C>G (p.Thr880Ser) rs1555196298
NM_014780.5(CUL7):c.[2164C>T;4911dup]
NM_014780.5(CUL7):c.[3129G>A;4763T>C]
NM_015311.3(OBSL1):c.[1273dup;836G>A]
NM_015338.6(ASXL1):c.658C>T (p.Gln220Ter) rs2011469981
NM_015365.3(AMMECR1):c.805C>T (p.Gln269Ter) rs750022919
NM_018136.5(ASPM):c.[1789C>T;2525_2531del]
NM_022455.5(NSD1):c.5509+1G>A rs1757808917
NM_023110.3(FGFR1):c.2138T>C (p.Leu713Pro) rs1815455535
NM_024312.5(GNPTAB):c.[2715+1G>A;2980_2983del]
NM_031220.4(PITPNM3):c.274C>T (p.Arg92Ter) rs1555556099
NM_152564.5(VPS13B):c.[1044G>A;8916G>A]
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter) rs750777752
NM_153704.6(TMEM67):c.475T>C (p.Ser159Pro) rs775716868
NM_153717.3(EVC):c.1465-1G>A rs1731156302
NM_203475.3(PORCN):c.49_80del (p.Cys17fs) rs2061661681

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