List of variants reported as uncertain significance for bone disorder by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_022455.5(NSD1):c.4187C>T (p.Thr1396Met)	rs747298351	0.00009
NM_022455.5(NSD1):c.6259-8A>T	rs370529039	0.00008
NM_022455.5(NSD1):c.7531G>C (p.Asp2511His)	rs575229932	0.00003
NM_001844.5(COL2A1):c.3635G>C (p.Gly1212Ala)	rs1555164786
NM_001854.4(COL11A1):c.781-17T>G	rs1553239331
NM_004465.2(FGF10):c.541A>C (p.Asn181His)	rs1332768200
NM_022455.5(NSD1):c.3649C>A (p.Pro1217Thr)	rs372004424
NM_022455.5(NSD1):c.5779G>C (p.Ala1927Pro)	rs1554204128
NM_022455.5(NSD1):c.6107_6109dup (p.Gly2036_Asp2037insGly)	rs1554204958

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