List of variants reported as likely pathogenic for bone disorder by Clinical Genomics Laboratory, Stanford Medicine

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_015909.4(NBAS):c.1741C>T (p.Arg581Ter)	rs767280377	0.00001
NM_000141.5(FGFR2):c.1084+3A>G	rs879253721
NM_000460.4(THPO):c.13+2T>C	rs1714390786
NM_003611.3(OFD1):c.2387+1G>A	rs2047914412
NM_005445.4(SMC3):c.430-1G>T
NM_005450.6(NOG):c.611G>A (p.Arg204Gln)	rs104894610
NM_006766.5(KAT6A):c.4664G>A (p.Ser1555Asn)	rs1821677301

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