List of variants reported as pathogenic for autosomal recessive disease by Breda Genetics srl

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)	rs121908120	0.01450
NM_000082.4(ERCC8):c.173+1119G>C	rs1043679457	0.00006
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	rs104894396	0.00002
NM_001160372.4(TRAPPC9):c.1129C>T (p.Arg377Ter)	rs267607136	0.00001
NC_000005.9:g.60164820_60244992del
NM_000271.5(NPC1):c.3100G>A (p.Gly1034Arg)	rs2058637844
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter)	rs1355690902
NM_001134831.2(AHI1):c.910dup (p.Thr304fs)	rs753874898
NM_014780.5(CUL7):c.4451_4452del (p.Val1484fs)	rs730880261

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