List of variants studied for Stickler syndrome type 2 by Genome-Nilou Lab

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001854.4(COL11A1):c.2295+37A>T	rs2622867	0.91369
NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro)	rs1676486	0.81716
NM_001854.4(COL11A1):c.4512T>C (p.Gly1504=)	rs1763347	0.64340
NM_001854.4(COL11A1):c.2611-19A>C	rs11164649	0.57301
NM_001854.4(COL11A1):c.3968C>T (p.Pro1323Leu)	rs3753841	0.50032
NM_001854.4(COL11A1):c.4770T>C (p.Ile1590=)	rs2229783	0.49335
NM_001854.4(COL11A1):c.274+42G>C	rs11164662	0.48053
NM_001854.4(COL11A1):c.2656-28T>C	rs1903787	0.32791
NM_001854.4(COL11A1):c.3168+41T>C	rs1012282	0.29091
NM_001854.4(COL11A1):c.275-7T>C	rs12136865	0.14046
NM_001854.4(COL11A1):c.1998+4T>A	rs12136577	0.10860
NM_001854.4(COL11A1):c.3025-23A>T	rs55682104	0.07912
NM_001854.4(COL11A1):c.1792-39ATG[9]	rs71752747
NM_001854.4(COL11A1):c.3375C>T (p.Asp1125=)	rs17127270
NM_001854.4(COL11A1):c.3817-13dup	rs34228277
NM_001854.4(COL11A1):c.652-6del	rs36076089

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