List of variants studied for X-linked spondyloepimetaphyseal dysplasia

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001711.6(BGN):c.540C>T (p.Ser180=)	rs1126499	0.42617
NM_001711.6(BGN):c.141G>A (p.Ser47=)	rs4833	0.37237
NM_001711.6(BGN):c.771-32C>T	rs2073479	0.35838
NM_001711.6(BGN):c.257A>G (p.Lys86Arg)	rs146073993	0.01131
NM_001711.6(BGN):c.111C>T (p.Asn37=)	rs145819764	0.00141
NM_001711.6(BGN):c.17G>A (p.Arg6His)	rs781931209	0.00002
NM_001711.6(BGN):c.954C>T (p.Asn318=)	rs1357283426	0.00001
NM_001711.6(BGN):c.955G>A (p.Asp319Asn)	rs933381952	0.00001
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)	rs128624224
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg)	rs128624218
NM_001711.6(BGN):c.238+75A>G	rs2980053
NM_001711.6(BGN):c.439A>G (p.Lys147Glu)	rs879255604
NM_001711.6(BGN):c.441G>C (p.Lys147Asn)
NM_001711.6(BGN):c.645C>G (p.Ile215Met)	rs2089802360
NM_001711.6(BGN):c.682C>T (p.Pro228Ser)	rs2089804261
NM_001711.6(BGN):c.776G>T (p.Gly259Val)	rs879255605
NM_001711.6(BGN):c.909+115T>C	rs2269404

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