List of variants reported as pathogenic for bone disorder by Istanbul Faculty of Medicine, Istanbul University

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg)	rs191943709	0.00001
NM_000088.4(COL1A1):c.1013G>T (p.Gly338Val)	rs1555574249
NM_000088.4(COL1A1):c.2398-2A>G	rs2144554674
NM_000088.4(COL1A1):c.3316G>T (p.Gly1106Cys)	rs2144542487
NM_000088.4(COL1A1):c.4238A>G (p.Asp1413Gly)	rs2144531133
NM_000089.4(COL1A2):c.1351G>A (p.Gly451Ser)	rs2484712486
NM_000135.4(FANCA):c.1343A>G (p.Tyr448Cys)	rs769203048
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del)	rs1310756192
NM_000135.4(FANCA):c.2679G>A (p.Trp893Ter)	rs2143288874
NM_000135.4(FANCA):c.495del (p.Phe166fs)	rs2143677288
NM_001024630.4(RUNX2):c.1281del (p.Gly428fs)	rs1802421481
NM_001024630.4(RUNX2):c.29dup (p.Thr11fs)	rs1786864520
NM_001024630.4(RUNX2):c.443_454delinsG (p.Val148fs)	rs1798551566
NM_001024630.4(RUNX2):c.594_595delinsG (p.Thr198_Leu199insTer)	rs1798733144
NM_001024630.4(RUNX2):c.636dup (p.Tyr213fs)	rs1798735440
NM_014140.4(SMARCAL1):c.1027_1034del (p.Phe343fs)	rs2106020733
NM_014780.5(CUL7):c.2064-1G>A	rs2150328634
NM_022356.4(P3H1):c.1852del (p.Tyr617_Leu618insTer)	rs2124079876

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