ClinVar Miner

List of variants studied for Short stature by Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 129
Download table as spreadsheet
HGVS dbSNP
NM_001012728.1(DPRX):c.466C>T (p.Arg156Ter) rs201435914
NM_001014447.3(CPZ):c.1321G>T (p.Gly441Trp) rs775707132
NM_001014447.3(CPZ):c.493C>T (p.Arg165Trp) rs375633720
NM_001080481.2(USP45):c.1567A>G (p.Ser523Gly) rs1562308994
NM_001080481.2(USP45):c.178T>G (p.Ser60Ala) rs1562456317
NM_001080481.2(USP45):c.1990G>T (p.Gly664Ter) rs141844660
NM_001080481.2(USP45):c.727G>A (p.Val243Met) rs1562391520
NM_001105079.3(FBRS):c.2137G>A (p.Gly713Ser) rs1567547614
NM_001105079.3(FBRS):c.2594C>T (p.Pro865Leu) rs751526547
NM_001105079.3(FBRS):c.2896C>G (p.Pro966Ala) rs1259852690
NM_001142966.2(GREB1L):c.111T>G (p.Phe37Leu) rs1567966432
NM_001142966.2(GREB1L):c.988C>T (p.Arg330Trp) rs377314861
NM_001271223.2(OBSCN):c.21658G>C (p.Ala7220Pro) rs779560573
NM_001271223.2(OBSCN):c.7595C>T (p.Ala2532Val) rs1480591236
NM_001271223.2(OBSCN):c.8582C>T (p.Thr2861Met) rs747262678
NM_001278432.1(N4BP2L2):c.1406dup (p.Asn469fs) rs1158061584
NM_001466.4(FZD2):c.1403T>G (p.Leu468Arg) rs1568105562
NM_001466.4(FZD2):c.655C>T (p.Arg219Cys) rs375633511
NM_001704.3(ADGRB3):c.2294T>C (p.Val765Ala) rs1562137453
NM_001704.3(ADGRB3):c.4298G>A (p.Arg1433Lys) rs1562005199
NM_002556.3(OSBP):c.1519C>T (p.Arg507Ter) rs1565117343
NM_002645.4(PIK3C2A):c.1640+1G>T rs1565272952
NM_002695.4(POLR2E):c.233-2A>G rs1297383239
NM_002815.4(PSMD11):c.850-3_850del rs1567858976
NM_002862.4(PYGB):c.2047A>G (p.Met683Val) rs201805961
NM_002944.2(ROS1):c.3088A>G (p.Thr1030Ala) rs770947269
NM_002944.2(ROS1):c.4601del (p.Asn1534fs) rs776274768
NM_002956.2(CLIP1):c.430C>T (p.Arg144Ter) rs984649575
NM_003601.4(SMARCA5):c.940A>C (p.Lys314Gln) rs1560814874
NM_003862.3(FGF18):c.211C>T (p.Arg71Cys) rs1441510334
NM_004284.6(CHD1L):c.1929del (p.Arg643fs) rs782144677
NM_004362.3(CLGN):c.386C>A (p.Pro129Gln) rs1560743601
NM_004362.3(CLGN):c.731A>G (p.Asp244Gly) rs201306926
NM_004362.3(CLGN):c.959A>G (p.Lys320Arg) rs1560739587
NM_004961.4(GABRE):c.399C>A (p.Tyr133Ter) rs998297769
NM_004979.6(KCND1):c.1468-8G>T rs376253982
NM_004979.6(KCND1):c.1774C>T (p.Arg592Trp) rs1230432769
NM_005560.5(LAMA5):c.10322C>T (p.Thr3441Met) rs200093098
NM_005560.5(LAMA5):c.10433G>A (p.Ser3478Asn) rs772483268
NM_005560.5(LAMA5):c.1249A>T (p.Asn417Tyr) rs559408041
NM_005560.5(LAMA5):c.3244C>A (p.Pro1082Thr) rs766464011
NM_005560.5(LAMA5):c.6101A>G (p.Asp2034Gly) rs773956500
NM_005560.5(LAMA5):c.6226G>T (p.Ala2076Ser) rs368328748
NM_005560.5(LAMA5):c.6301G>A (p.Glu2101Lys) rs370433088
NM_006307.5(SRPX):c.508C>T (p.Arg170Trp) rs375318852
NM_006307.5(SRPX):c.731G>C (p.Arg244Thr) rs756386867
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283
NM_006767.4(LZTR1):c.62G>C (p.Arg21Pro) rs1469540056
NM_006841.6(SLC38A3):c.1108C>A (p.Arg370Ser) rs1352789248
NM_006841.6(SLC38A3):c.1441C>A (p.Leu481Met) rs587595868
NM_006841.6(SLC38A3):c.686T>C (p.Ile229Thr) rs780109786
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_012090.5(MACF1):c.11812-11C>T rs758773350
NM_012090.5(MACF1):c.12510G>T (p.Trp4170Cys) rs1201537875
NM_012090.5(MACF1):c.16058G>A (p.Arg5353His) rs755081350
NM_012090.5(MACF1):c.3842G>A (p.Arg1281Gln) rs559634261
NM_012090.5(MACF1):c.6296A>G (p.Lys2099Arg) rs1557609859
NM_012244.4(SLC7A8):c.730G>A (p.Ala244Thr) rs752482499
NM_012244.4(SLC7A8):c.851A>G (p.Asn284Ser) rs759951698
NM_012274.2(H2AP):c.321_322del (p.Phe107fs) rs1569148952
NM_013943.3(CLIC4):c.220C>T (p.His74Tyr) rs1557810606
NM_014055.4(IFT81):c.1150C>T (p.Arg384Cys) rs143130309
NM_014055.4(IFT81):c.259C>T (p.Arg87Cys) rs761469100
NM_014815.4(MED24):c.1247C>G (p.Thr416Ser) rs1568162263
NM_014815.4(MED24):c.2288G>A (p.Arg763Gln) rs760297650
NM_014838.3(ZBED4):c.172C>T (p.Arg58Ter) rs1333906033
NM_014856.3(DENND4B):c.1825C>T (p.Leu609Phe) rs1557853919
NM_014856.3(DENND4B):c.2828G>C (p.Trp943Ser) rs201381125
NM_015009.3(PDZRN3):c.1417-10T>C rs778037798
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_015365.3(AMMECR1):c.454del (p.Arg152fs) rs1569405174
NM_015419.4(MXRA5):c.1783G>A (p.Val595Met) rs144346765
NM_015419.4(MXRA5):c.3691C>T (p.Arg1231Trp) rs750352033
NM_016436.5(PHF20):c.2593G>A (p.Asp865Asn) rs771829423
NM_016436.5(PHF20):c.890C>T (p.Pro297Leu) rs1456887132
NM_017514.5(PLXNA3):c.1623G>C (p.Gln541His) rs782515431
NM_017514.5(PLXNA3):c.56G>A (p.Gly19Asp) rs202070666
NM_017908.4(ZNF446):c.1028G>A (p.Trp343Ter) rs776780438
NM_017908.4(ZNF446):c.1240C>T (p.Arg414Cys) rs201395980
NM_017908.4(ZNF446):c.853G>T (p.Gly285Cys) rs1266909771
NM_017999.5(RNF31):c.2333A>G (p.Tyr778Cys) rs1566615893
NM_017999.5(RNF31):c.2480G>A (p.Arg827His) rs377035972
NM_018031.6(WDR6):c.2543G>A (p.Arg848His) rs150300426
NM_020744.3(MTA3):c.635G>A (p.Cys212Tyr) rs1558553140
NM_020765.3(UBR4):c.10388G>A (p.Arg3463His) rs747867083
NM_020765.3(UBR4):c.13828C>A (p.Pro4610Thr) rs761960636
NM_020765.3(UBR4):c.14237C>T (p.Pro4746Leu) rs143617535
NM_020765.3(UBR4):c.4045C>G (p.Arg1349Gly) rs776593168
NM_020765.3(UBR4):c.6325G>A (p.Gly2109Ser) rs144709443
NM_020765.3(UBR4):c.7031A>G (p.Asn2344Ser) rs748323629
NM_020884.4(MYH7B):c.1270_1271del (p.Ser425Cysfs) rs771172991
NM_020884.5(MYH7B):c.1705_1707del (p.Ile569del) rs771119776
NM_020884.5(MYH7B):c.3112G>A (p.Val1038Met) rs1430282035
NM_020884.5(MYH7B):c.4316+5G>C rs1569062521
NM_020884.5(MYH7B):c.5075C>G (p.Thr1692Arg) rs200207301
NM_024899.4(CEP76):c.108A>G (p.Ile36Met) rs773662461
NM_024899.4(CEP76):c.1874G>A (p.Arg625His) rs1363884891
NM_024899.4(CEP76):c.985G>A (p.Ala329Thr) rs146808596
NM_025130.4(HKDC1):c.1009C>T (p.Arg337Trp) rs148723879
NM_025130.4(HKDC1):c.1088C>T (p.Pro363Leu) rs200034765
NM_025130.4(HKDC1):c.301G>T (p.Gly101Trp) rs1564726619
NM_025191.4(EDEM3):c.1204T>G (p.Leu402Val) rs1558053119
NM_025191.4(EDEM3):c.2431G>T (p.Asp811Tyr) rs765435034
NM_032410.4(HOOK3):c.1150G>A (p.Glu384Lys) rs747141054
NM_032410.4(HOOK3):c.225T>G (p.Asn75Lys) rs1563293555
NM_033626.3(CCDC120):c.1130C>T (p.Pro377Leu) rs911802103
NM_058243.2(BRD4):c.1856G>T (p.Ser619Ile) rs1568383758
NM_133178.4(PTPRU):c.2531C>T (p.Pro844Leu) rs559788899
NM_133178.4(PTPRU):c.3136G>A (p.Val1046Ile) rs201471973
NM_133178.4(PTPRU):c.4165A>C (p.Met1389Leu) rs540351799
NM_133450.4(ANKS3):c.1960dup (p.Arg654fs) rs1567280099
NM_144982.5(ZFC3H1):c.5885T>C (p.Leu1962Pro) rs1565798439
NM_144982.5(ZFC3H1):c.947G>A (p.Arg316His) rs767539150
NM_152695.6(ZNF449):c.394G>A (p.Val132Met) rs1569497334
NM_152695.6(ZNF449):c.659T>C (p.Leu220Pro) rs1569498095
NM_152718.2(VWCE):c.1633C>T (p.Arg545Ter) rs537353127
NM_173628.3(DNAH17):c.3766G>A (p.Gly1256Arg) rs768564744
NM_173628.3(DNAH17):c.6563G>A (p.Arg2188Gln) rs763505389
NM_173628.3(DNAH17):c.779C>T (p.Ala260Val) rs375060973
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_201286.3(USP51):c.13C>T (p.Arg5Ter) rs1569197778

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.