ClinVar Miner

List of variants studied for Short stature

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Total variants: 158
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HGVS dbSNP gnomAD frequency
NM_017514.5(PLXNA3):c.56G>A (p.Gly19Asp) rs202070666 0.00066
NM_015419.4(MXRA5):c.1783G>A (p.Val595Met) rs144346765 0.00044
NM_020765.3(UBR4):c.14237C>T (p.Pro4746Leu) rs143617535 0.00041
NM_001012728.2(DPRX):c.466C>T (p.Arg156Ter) rs201435914 0.00036
NM_133178.4(PTPRU):c.3136G>A (p.Val1046Ile) rs201471973 0.00032
NM_144982.5(ZFC3H1):c.947G>A (p.Arg316His) rs767539150 0.00032
NM_017908.4(ZNF446):c.1240C>T (p.Arg414Cys) rs201395980 0.00031
NM_005560.6(LAMA5):c.10322C>T (p.Thr3441Met) rs200093098 0.00030
NM_020884.7(MYH7B):c.4949C>G (p.Thr1650Arg) rs200207301 0.00029
NM_024899.4(CEP76):c.985G>A (p.Ala329Thr) rs146808596 0.00024
NM_004979.6(KCND1):c.1468-8G>T rs376253982 0.00022
NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser) rs117134265 0.00019
NM_014856.3(DENND4B):c.2828G>C (p.Trp943Ser) rs201381125 0.00017
NM_001386125.1(OBSCN):c.21658G>C (p.Ala7220Pro) rs779560573 0.00015
NM_004560.4(ROR2):c.2117G>A (p.Arg706Gln) rs369717474 0.00013
NM_001346022.3(USP45):c.1990G>T (p.Gly664Ter) rs141844660 0.00012
NM_025130.4(HKDC1):c.1009C>T (p.Arg337Trp) rs148723879 0.00012
NM_004560.4(ROR2):c.1930G>A (p.Asp644Asn) rs55798732 0.00011
NM_005560.6(LAMA5):c.6301G>A (p.Glu2101Lys) rs370433088 0.00010
NM_014815.4(MED24):c.2288G>A (p.Arg763Gln) rs760297650 0.00010
NM_015009.3(PDZRN3):c.1417-10T>C rs778037798 0.00010
NM_017908.4(ZNF446):c.1028G>A (p.Trp343Ter) rs776780438 0.00010
NM_017999.5(RNF31):c.2480G>A (p.Arg827His) rs377035972 0.00010
NM_006841.6(SLC38A3):c.1441C>A (p.Leu481Met) rs587595868 0.00009
NM_001466.4(FZD2):c.655C>T (p.Arg219Cys) rs375633511 0.00007
NM_004560.4(ROR2):c.935G>A (p.Arg312His) rs188376581 0.00007
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_004560.4(ROR2):c.2212C>T (p.Arg738Cys) rs56231927 0.00006
NM_005560.6(LAMA5):c.1249A>T (p.Asn417Tyr) rs559408041 0.00006
NM_005560.6(LAMA5):c.3244C>A (p.Pro1082Thr) rs766464011 0.00006
NM_005560.6(LAMA5):c.6226G>T (p.Ala2076Ser) rs368328748 0.00006
NM_020765.3(UBR4):c.7031A>G (p.Asn2344Ser) rs748323629 0.00006
NM_006307.5(SRPX):c.508C>T (p.Arg170Trp) rs375318852 0.00005
NM_032410.4(HOOK3):c.1150G>A (p.Glu384Lys) rs747141054 0.00005
NM_001014447.3(CPZ):c.493C>T (p.Arg165Trp) rs375633720 0.00004
NM_017514.5(PLXNA3):c.1623G>C (p.Gln541His) rs782515431 0.00004
NM_001105079.3(FBRS):c.2896C>G (p.Pro966Ala) rs1259852690 0.00003
NM_001394062.1(MACF1):c.18687G>T (p.Trp6229Cys) rs1201537875 0.00003
NM_004961.4(GABRE):c.399C>A (p.Tyr133Ter) rs998297769 0.00003
NM_004979.6(KCND1):c.1774C>T (p.Arg592Trp) rs1230432769 0.00003
NM_006841.6(SLC38A3):c.686T>C (p.Ile229Thr) rs780109786 0.00003
NM_020765.3(UBR4):c.13828C>A (p.Pro4610Thr) rs761960636 0.00003
NM_025191.4(EDEM3):c.2431G>T (p.Asp811Tyr) rs765435034 0.00003
NM_173628.4(DNAH17):c.3766G>A (p.Gly1256Arg) rs768564744 0.00003
NM_001247997.2(CLIP1):c.430C>T (p.Arg144Ter) rs984649575 0.00002
NM_001394062.1(MACF1):c.22433G>A (p.Arg7478His) rs755081350 0.00002
NM_001394062.1(MACF1):c.3827G>A (p.Arg1276Gln) rs559634261 0.00002
NM_002862.4(PYGB):c.2047A>G (p.Met683Val) rs201805961 0.00002
NM_004284.6(CHD1L):c.1929del (p.Arg643fs) rs782144677 0.00002
NM_005560.6(LAMA5):c.10433G>A (p.Ser3478Asn) rs772483268 0.00002
NM_005560.6(LAMA5):c.6101A>G (p.Asp2034Gly) rs773956500 0.00002
NM_025130.4(HKDC1):c.1088C>T (p.Pro363Leu) rs200034765 0.00002
NM_001142966.3(GREB1L):c.988C>T (p.Arg330Trp) rs377314861 0.00001
NM_001163321.4(CCDC120):c.1235C>T (p.Pro412Leu) rs911802103 0.00001
NM_001386125.1(OBSCN):c.7595C>T (p.Ala2532Val) rs1480591236 0.00001
NM_001386125.1(OBSCN):c.8582C>T (p.Thr2861Met) rs747262678 0.00001
NM_001394062.1(MACF1):c.17989-11C>T rs758773350 0.00001
NM_003862.3(FGF18):c.211C>T (p.Arg71Cys) rs1441510334 0.00001
NM_004362.3(CLGN):c.731A>G (p.Asp244Gly) rs201306926 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_006307.5(SRPX):c.731G>C (p.Arg244Thr) rs756386867 0.00001
NM_012244.4(SLC7A8):c.730G>A (p.Ala244Thr) rs752482499 0.00001
NM_012244.4(SLC7A8):c.851A>G (p.Asn284Ser) rs759951698 0.00001
NM_014055.4(IFT81):c.1150C>T (p.Arg384Cys) rs143130309 0.00001
NM_014055.4(IFT81):c.259C>T (p.Arg87Cys) rs761469100 0.00001
NM_015419.4(MXRA5):c.3691C>T (p.Arg1231Trp) rs750352033 0.00001
NM_016436.5(PHF20):c.2593G>A (p.Asp865Asn) rs771829423 0.00001
NM_017908.4(ZNF446):c.853G>T (p.Gly285Cys) rs1266909771 0.00001
NM_018031.6(WDR6):c.2543G>A (p.Arg848His) rs150300426 0.00001
NM_020765.3(UBR4):c.10388G>A (p.Arg3463His) rs747867083 0.00001
NM_020765.3(UBR4):c.4045C>G (p.Arg1349Gly) rs776593168 0.00001
NM_020765.3(UBR4):c.6325G>A (p.Gly2109Ser) rs144709443 0.00001
NM_020884.7(MYH7B):c.2986G>A (p.Val996Met) rs1430282035 0.00001
NM_024899.4(CEP76):c.108A>G (p.Ile36Met) rs773662461 0.00001
NM_133178.4(PTPRU):c.2531C>T (p.Pro844Leu) rs559788899 0.00001
NM_133178.4(PTPRU):c.4165A>C (p.Met1389Leu) rs540351799 0.00001
NM_152718.2(VWCE):c.1633C>T (p.Arg545Ter) rs537353127 0.00001
NM_173628.4(DNAH17):c.6563G>A (p.Arg2188Gln) rs763505389 0.00001
NM_173628.4(DNAH17):c.779C>T (p.Ala260Val) rs375060973 0.00001
46;XY;t(1;15)(p22.3;q15)
GRCh37/hg19 3q27.1-28(chr3:183556940-188083060)
NM_000142.5(FGFR3):c.1618A>C (p.Asn540His) rs1057519049
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.833A>G (p.Tyr278Cys) rs121913115
NM_000875.5(IGF1R):c.3872A>G (p.Glu1291Gly) rs1215292877
NM_001014447.3(CPZ):c.1321G>T (p.Gly441Trp) rs775707132
NM_001105079.3(FBRS):c.2137G>A (p.Gly713Ser) rs1567547614
NM_001105079.3(FBRS):c.2594C>T (p.Pro865Leu) rs751526547
NM_001142966.3(GREB1L):c.111T>G (p.Phe37Leu) rs1567966432
NM_001278432.2(N4BP2L2):c.1406dup (p.Asn469fs) rs1158061584
NM_001312909.2(FAM111A):c.364C>T (p.Gln122Ter)
NM_001330442.2(MTA3):c.635G>A (p.Cys212Tyr) rs1558553140
NM_001346022.3(USP45):c.1567A>G (p.Ser523Gly) rs1562308994
NM_001346022.3(USP45):c.178T>G (p.Ser60Ala) rs1562456317
NM_001346022.3(USP45):c.727G>A (p.Val243Met) rs1562391520
NM_001369268.1(ACAN):c.2690G>A (p.Gly897Glu) rs1897026077
NM_001369268.1(ACAN):c.6798_6799delinsTT (p.Glu2267Ter) rs2141613985
NM_001378902.1(ROS1):c.3073A>G (p.Thr1025Ala) rs770947269
NM_001378902.1(ROS1):c.4583del (p.Asn1528fs) rs776274768
NM_001379291.1(BRD4):c.1856G>T (p.Ser619Ile) rs1568383758
NM_001379291.1(BRD4):c.231_233del (p.His77del) rs1599473950
NM_001394062.1(MACF1):c.12482A>G (p.Lys4161Arg) rs1557609859
NM_001466.4(FZD2):c.1403T>G (p.Leu468Arg) rs1568105562
NM_001704.3(ADGRB3):c.2294T>C (p.Val765Ala) rs1562137453
NM_001704.3(ADGRB3):c.4298G>A (p.Arg1433Lys) rs1562005199
NM_001844.5(COL2A1):c.3971T>G (p.Val1324Gly) rs1938610955
NM_001854.4(COL11A1):c.1889A>T (p.Asp630Val)
NM_002556.3(OSBP):c.1519C>T (p.Arg507Ter) rs1565117343
NM_002645.4(PIK3C2A):c.1640+1G>T rs1565272952
NM_002695.5(POLR2E):c.233-2A>G rs1297383239
NM_002815.4(PSMD11):c.850-3_850del
NM_002941.4(ROBO1):c.1265A>G (p.Asp422Gly) rs2107823148
NM_003392.7(WNT5A):c.654G>C (p.Met218Ile)
NM_003601.4(SMARCA5):c.940A>C (p.Lys314Gln) rs1560814874
NM_003995.4(NPR2):c.1710+3A>G rs1828199038
NM_004362.3(CLGN):c.386C>A (p.Pro129Gln) rs1560743601
NM_004362.3(CLGN):c.959A>G (p.Lys320Arg) rs1560739587
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_006231.4(POLE):c.4337_4338dup (p.Val1447fs) rs758487568
NM_006767.4(LZTR1):c.62G>C (p.Arg21Pro) rs1469540056
NM_006841.6(SLC38A3):c.1108C>A (p.Arg370Ser) rs1352789248
NM_006885.4(ZFHX3):c.3757C>T (p.Arg1253Cys) rs769603301
NM_006885.4(ZFHX3):c.8548G>A (p.Glu2850Lys) rs774848265
NM_007368.4(RASA3):c.254T>C (p.Val85Ala) rs1566529937
NM_007368.4(RASA3):c.892_895del (p.Asp298fs) rs746040003
NM_012274.2(H2AP):c.321_322del (p.Phe107fs) rs1569148952
NM_013943.3(CLIC4):c.220C>T (p.His74Tyr) rs1557810606
NM_014815.4(MED24):c.1247C>G (p.Thr416Ser) rs1568162263
NM_014838.3(ZBED4):c.172C>T (p.Arg58Ter) rs1333906033
NM_014856.3(DENND4B):c.1825C>T (p.Leu609Phe) rs1557853919
NM_015009.3(PDZRN3):c.2101A>C (p.Ser701Arg) rs747762087
NM_015306.3(USP24):c.2491A>G (p.Met831Val) rs1557627382
NM_015306.3(USP24):c.2747A>T (p.Tyr916Phe) rs1557625169
NM_015306.3(USP24):c.7448-7C>T rs1557523211
NM_015311.3(OBSL1):c.690dup (p.Glu231fs) rs1553538488
NM_015365.3(AMMECR1):c.454del (p.Arg152fs) rs1569405174
NM_016436.5(PHF20):c.890C>T (p.Pro297Leu) rs1456887132
NM_017999.5(RNF31):c.2333A>G (p.Tyr778Cys) rs1566615893
NM_020884.5(MYH7B):c.1272_1273del (p.Ser425Cysfs) rs771172991
NM_020884.7(MYH7B):c.1579_1581del (p.Ile527del) rs771119776
NM_020884.7(MYH7B):c.4190+5G>C rs1569062521
NM_024899.4(CEP76):c.1874G>A (p.Arg625His) rs1363884891
NM_025130.4(HKDC1):c.301G>T (p.Gly101Trp) rs1564726619
NM_025191.4(EDEM3):c.1204T>G (p.Leu402Val) rs1558053119
NM_032410.4(HOOK3):c.225T>G (p.Asn75Lys) rs1563293555
NM_133450.4(ANKS3):c.1960dup (p.Arg654fs) rs1567280099
NM_144982.5(ZFC3H1):c.5885T>C (p.Leu1962Pro) rs1565798439
NM_152695.6(ZNF449):c.394G>A (p.Val132Met) rs1569497334
NM_152695.6(ZNF449):c.659T>C (p.Leu220Pro) rs1569498095
NM_175635.3(RUNX1T1):c.66_67insT (p.Pro23fs) rs1563765580
NM_198510.3(ITIH6):c.1487A>T (p.Asn496Ile) rs1569543903
NM_198510.3(ITIH6):c.2377C>T (p.Gln793Ter) rs761191483
NM_201286.4(USP51):c.13C>T (p.Arg5Ter) rs1569197778
t(1;12)(p36.1;p13.32)dn

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