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

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_006446.5(SLCO1B1):c.1738C>T (p.Arg580Ter)	rs71581941	0.00150
NM_198252.3(GSN):c.431G>A (p.Arg144Gln)	rs144099356	0.00012
NM_003982.4(SLC7A7):c.625+1G>A	rs386833822	0.00004
NM_022436.3(ABCG5):c.-76C>T	rs560839317	0.00004
NM_000398.7(CYB5R3):c.611G>A (p.Cys204Tyr)	rs121965015	0.00002
NM_000143.4(FH):c.1189G>A (p.Gly397Arg)	rs863224007	0.00001
NM_144997.7(FLCN):c.1579_1580insA (p.Arg527fs)	rs753009073	0.00001
NM_000038.6(APC):c.3260_3261del (p.Leu1087fs)	rs587782305
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	rs421016
NM_000335.5(SCN5A):c.4313dup (p.Trp1439fs)	rs2125835486
NM_000388.4(CASR):c.2156G>A (p.Trp719Ter)	rs2107650046
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_001042492.3(NF1):c.4770_4771del (p.Ser1591fs)	rs2151470150
NM_001098816.3(TENM4):c.1262C>T (p.Pro421Leu)	rs2136208238
NM_004646.4(NPHS1):c.2172_2173del (p.Glu725fs)	rs386833906
NM_033380.3(COL4A5):c.4455_4465del (p.Thr1486fs)
NM_033380.3(COL4A5):c.5038C>T (p.Arg1680Ter)	rs281874753

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