ClinVar Miner

List of variants reported as pathogenic for Short stature

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Total variants: 26
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HGVS dbSNP
46;XY;t(1;15)(p22.3;q15)
NM_000142.4(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.4(FGFR3):c.833A>G (p.Tyr278Cys) rs121913115
NM_001012728.1(DPRX):c.466C>T (p.Arg156Ter) rs201435914
NM_001080481.2(USP45):c.1990G>T (p.Gly664Ter) rs141844660
NM_001278432.1(N4BP2L2):c.1406dup (p.Asn469fs) rs1158061584
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_002944.2(ROS1):c.4601del (p.Asn1534fs) rs776274768
NM_002956.2(CLIP1):c.430C>T (p.Arg144Ter) rs984649575
NM_004284.6(CHD1L):c.1929del (p.Arg643fs) rs782144677
NM_004961.4(GABRE):c.399C>A (p.Tyr133Ter) rs998297769
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283
NM_007368.4(RASA3):c.892_895del (p.Asp298fs) rs746040003
NM_012274.2(H2AP):c.321_322del (p.Phe107fs) rs1569148952
NM_014838.3(ZBED4):c.172C>T (p.Arg58Ter) rs1333906033
NM_015365.3(AMMECR1):c.454del (p.Arg152fs) rs1569405174
NM_017908.4(ZNF446):c.1028G>A (p.Trp343Ter) rs776780438
NM_020884.4(MYH7B):c.1270_1271del (p.Ser425Cysfs) rs771172991
NM_133450.4(ANKS3):c.1960dup (p.Arg654fs) rs1567280099
NM_152718.2(VWCE):c.1633C>T (p.Arg545Ter) rs537353127
NM_175635.3(RUNX1T1):c.66_67insT (p.Pro23fs) rs1563765580
NM_198510.3(ITIH6):c.2377C>T (p.Gln793Ter) rs761191483
NM_201286.3(USP51):c.13C>T (p.Arg5Ter) rs1569197778

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