List of variants studied for Radio-Tartaglia syndrome by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_015001.3(SPEN):c.5806C>T (p.Arg1936Ter)	rs2071226510
NM_015001.3(SPEN):c.6058C>T (p.Gln2020Ter)	rs752207572
NM_015001.3(SPEN):c.6087_6088del (p.Glu2029fs)	rs2148740878
NM_015001.3(SPEN):c.6974_6975del (p.Leu2325fs)	rs2071239657
NM_015001.3(SPEN):c.7338_7339dup (p.Arg2447fs)	rs2148741888

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