List of variants studied for arterial tortuosity syndrome by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)	rs121908173	0.00010
NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp)	rs121908172	0.00004
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs)	rs587776600
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg)	rs80358230
NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter)	rs80358229
NM_030777.4(SLC2A10):c.961del (p.Val321fs)	rs587776599

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