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

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_003999.3(OSMR):c.1538G>A (p.Gly513Asp)	rs202145435	0.00034
NM_031885.5(BBS2):c.534+1G>T	rs773862084	0.00004
NM_000158.4(GBE1):c.466C>T (p.Arg156Cys)	rs763302311	0.00001
NM_000298.6(PKLR):c.1277G>A (p.Arg426Gln)	rs768002493	0.00001
NM_001009944.3(PKD1):c.9202-16G>A	rs1389523126	0.00001
NM_006767.4(LZTR1):c.1365C>T (p.Cys455=)	rs1386837360	0.00001
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)	rs80338957
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)	rs2513773078
NM_016306.6(DNAJB11):c.266dup (p.Tyr89Ter)	rs2474564821
NM_017617.5(NOTCH1):c.2266G>T (p.Glu756Ter)	rs1271941628
NM_033380.3(COL4A5):c.1584_1587+6del	rs2524305677
NM_152296.5(ATP1A3):c.1630+2dup
UGT1A1*28	rs3064744

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