List of variants reported as likely pathogenic for Hajdu-Cheney syndrome

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_024408.4(NOTCH2):c.2653dup (p.His885fs)	rs2101114577
NM_024408.4(NOTCH2):c.337C>T (p.Arg113Ter)
NM_024408.4(NOTCH2):c.3508G>T (p.Gly1170Ter)	rs2101098803
NM_024408.4(NOTCH2):c.5781+1G>T
NM_024408.4(NOTCH2):c.6193_6194dup (p.Asn2066fs)	rs2101144806
NM_024408.4(NOTCH2):c.6274del (p.Leu2092fs)
NM_024408.4(NOTCH2):c.6853C>T (p.Gln2285Ter)	rs1553193507
NM_024408.4(NOTCH2):c.6909dup (p.Ile2304fs)	rs771237928
NM_024408.4(NOTCH2):c.6912dup (p.Val2305fs)	rs2101142622
NM_024408.4(NOTCH2):c.6919_6920del (p.Phe2307fs)	rs1570654979

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