List of variants reported as likely pathogenic for bone disorder by Molecular Genetics Lab, CHRU Brest

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp)	rs144689354	0.00006
NM_000528.4(MAN2B1):c.2176G>A (p.Gly726Arg)	rs2512489692
NM_001365902.3(NFIX):c.637C>T (p.Gln213Ter)	rs886041422
NM_002834.5(PTPN11):c.787T>A (p.Tyr263Asn)	rs2540445590
NM_006306.4(SMC1A):c.2299del (p.Glu767fs)	rs2520920773
NM_006306.4(SMC1A):c.3118G>A (p.Glu1040Lys)	rs2520828084
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln)	rs587784416
NM_018486.3(HDAC8):c.164G>T (p.Arg55Met)	rs2522236271

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