List of variants studied for Siddiqi syndrome

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001080472.4(FITM2):c.694G>A (p.Gly232Arg)	rs765281145	0.00001
NM_001080472.4(FITM2):c.146T>A (p.Leu49His)	rs2146092876
NM_001080472.4(FITM2):c.1A>T (p.Met1Leu)
NM_001080472.4(FITM2):c.39dup (p.Thr14fs)	rs1255226703
NM_001080472.4(FITM2):c.4G>T (p.Glu2Ter)	rs1004658892
NM_001080472.4(FITM2):c.576del (p.Val193fs)
NM_001080472.4(FITM2):c.652C>T (p.Gln218Ter)	rs773801337

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