ClinVar Miner

List of variants reported as uncertain significance for Short stature by Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg

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Total variants: 34
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HGVS dbSNP
NM_001105079.3(FBRS):c.2594C>T (p.Pro865Leu) rs751526547
NM_001271223.2(OBSCN):c.21658G>C (p.Ala7220Pro) rs779560573
NM_001466.4(FZD2):c.655C>T (p.Arg219Cys) rs375633511
NM_002944.2(ROS1):c.3088A>G (p.Thr1030Ala) rs770947269
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.6226G>T (p.Ala2076Ser) rs368328748
NM_006307.5(SRPX):c.508C>T (p.Arg170Trp) rs375318852
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.8548G>A (p.Glu2850Lys) rs774848265
NM_012090.5(MACF1):c.11812-11C>T rs758773350
NM_012090.5(MACF1):c.12510G>T (p.Trp4170Cys) rs1201537875
NM_012090.5(MACF1):c.6296A>G (p.Lys2099Arg) rs1557609859
NM_014856.3(DENND4B):c.2828G>C (p.Trp943Ser) rs201381125
NM_015306.3(USP24):c.2491A>G (p.Met831Val) rs1557627382
NM_015306.3(USP24):c.2747A>T (p.Tyr916Phe) rs1557625169
NM_015419.4(MXRA5):c.1783G>A (p.Val595Met) rs144346765
NM_015419.4(MXRA5):c.3691C>T (p.Arg1231Trp) rs750352033
NM_017908.4(ZNF446):c.1240C>T (p.Arg414Cys) rs201395980
NM_017908.4(ZNF446):c.853G>T (p.Gly285Cys) rs1266909771
NM_020765.3(UBR4):c.14237C>T (p.Pro4746Leu) rs143617535
NM_020884.5(MYH7B):c.1705_1707del (p.Ile569del) rs771119776
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.985G>A (p.Ala329Thr) rs146808596
NM_033626.3(CCDC120):c.1130C>T (p.Pro377Leu) rs911802103
NM_133178.4(PTPRU):c.3136G>A (p.Val1046Ile) rs201471973
NM_152695.6(ZNF449):c.394G>A (p.Val132Met) rs1569497334
NM_152695.6(ZNF449):c.659T>C (p.Leu220Pro) rs1569498095
NM_173628.3(DNAH17):c.779C>T (p.Ala260Val) rs375060973
NM_198510.3(ITIH6):c.1487A>T (p.Asn496Ile) rs1569543903

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