List of variants reported as likely pathogenic by Department of Traditional Chinese Medicine, Fujian Provincial Hospital

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_031885.5(BBS2):c.534+1G>T	rs773862084	0.00004
NM_000298.6(PKLR):c.1277G>A (p.Arg426Gln)	rs768002493	0.00001
NM_006767.4(LZTR1):c.1365C>T (p.Cys455=)	rs1386837360	0.00001
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg)	rs875989883
NM_000444.6(PHEX):c.433G>T (p.Glu145Ter)	rs2147019297
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr)	rs879255066
NM_004646.4(NPHS1):c.1925T>C (p.Val642Ala)
NM_017617.5(NOTCH1):c.2266G>T (p.Glu756Ter)
NM_033380.3(COL4A5):c.1584_1587+6del

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