List of variants studied for bone disorder by Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001395891.1(CLASP1):c.196-605C>T	rs188343279	0.00038
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)	rs28931614
NM_000918.4(P4HB):c.236dup (p.Leu79fs)	rs2143371167
NM_001375808.2(LPIN2):c.1691_1694del (p.Arg564fs)	rs771295943
NM_001375808.2(LPIN2):c.2327+1G>C	rs80338808
NM_001395891.1(CLASP1):c.196-570C>T	rs750325275
NM_004836.7(EIF2AK3):c.12del (p.Ile5fs)	rs2103993244
NM_004836.7(EIF2AK3):c.641A>G (p.Tyr214Cys)	rs1327996297
NM_020297.4(ABCC9):c.3203T>C (p.Leu1068Pro)	rs2137388078

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