List of variants studied for bone development disease by DASA

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)	rs104893919	0.00012
NM_198525.3(KIF7):c.2896_2897del (p.Ala966fs)	rs752248403	0.00006
NM_004260.4(RECQL4):c.2492_2493del (p.His831fs)	rs752729755	0.00003
NM_007055.4(POLR3A):c.3013C>T (p.Arg1005Cys)	rs267608682	0.00002
NM_000089.4(COL1A2):c.946G>A (p.Gly316Ser)	rs72656392	0.00001
NM_001015880.2(PAPSS2):c.1000C>T (p.Arg334Ter)	rs121908952	0.00001
NM_007055.4(POLR3A):c.1046_1047del (p.Gln349fs)	rs754820097	0.00001
NM_000088.4(COL1A1):c.1400G>A (p.Gly467Glu)	rs267604943
NM_000088.4(COL1A1):c.1821+1G>A	rs66555264
NM_000089.4(COL1A2):c.1801G>A (p.Gly601Ser)	rs72658143
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr)	rs121918487
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)	rs28931614
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys)	rs28933068
NM_000942.5(PPIB):c.434_435del (p.Lys145fs)	rs1211592084
NM_001844.5(COL2A1):c.3574C>T (p.Arg1192Ter)	rs886042651
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val)	rs1553193910
NM_022356.4(P3H1):c.838C>T (p.Gln280Ter)	rs1652551021

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