List of variants reported as pathogenic for Ateleiotic dwarfism

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_003401.5(XRCC4):c.127T>C (p.Trp43Arg)	rs587779351	0.00002
GH1, 6.7-KB DEL
NC_000017.11:g.(63914995_63921260)del
NM_000059.4(BRCA2):c.9152del (p.Pro3051fs)	rs587779349
NM_000515.5(GH1):c.245_246del (p.Glu82fs)	rs1907472729
NM_000515.5(GH1):c.52del (p.Leu18fs)	rs2509253023
NM_000515.5(GH1):c.59G>A (p.Trp20Ter)	rs137853219
NM_014171.6(CRIPT):c.133_134insGG (p.Ala45fs)	rs587779356
NM_014171.6(CRIPT):c.141del (p.Phe47fs)	rs587779348

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