List of variants studied for bone disorder by Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_018965.4(TREM2):c.197C>T (p.Thr66Met)	rs201258663	0.00006
NM_015662.3(IFT172):c.2632A>G (p.Ile878Val)	rs1045778698	0.00001
NM_000088.4(COL1A1):c.2450_2451insG (p.Gly818fs)	rs2509190543
NM_000089.4(COL1A2):c.1604G>C (p.Gly535Ala)	rs1791980863
NM_000181.4(GUSB):c.647G>A (p.Arg216Gln)	rs1791836120
NM_000977.4(RPL13):c.478-1G>T	rs111631219
NM_001017995.3(SH3PXD2B):c.452C>T (p.Pro151Leu)	rs1246166974
NM_001104631.2(PDE4D):c.665T>C (p.Ile222Thr)	rs2530962892
NM_001369268.1(ACAN):c.6828dup (p.Ala2277fs)	rs2505335625
NM_001369268.1(ACAN):c.91G>T (p.Val31Phe)	rs1041254006
NM_001457.4(FLNB):c.1739G>T (p.Gly580Val)	rs2097257677
NM_005445.4(SMC3):c.1861A>T (p.Lys621Ter)	rs2493131856
NM_006031.6(PCNT):c.1164_1165del (p.Arg388fs)	rs2518077360
NM_016648.4(LARP7):c.691_694del (p.Glu231fs)	rs773589596
NM_018060.4(IARS2):c.349T>C (p.Tyr117His)
NM_018359.5(UFSP2):c.905G>C (p.Cys302Ser)	rs2153279702
NM_024312.5(GNPTAB):c.1342A>T (p.Lys448Ter)	rs2547959783
NM_152419.3(HGSNAT):c.1327G>A (p.Asp443Asn)	rs750583721

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