List of variants reported as pathogenic by Reutter Lab, Institute of Human Genetics, University Hospital Bonn

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys)	rs147232392	0.00206
NM_017637.6(BNC2):c.2636+499C>T	rs1350162888	0.00004
NM_013448.3(BAZ1A):c.3278G>A (p.Arg1093Gln)	rs776556963	0.00001
GRCh37/hg19 17q12(chr17:34815551-36208392)x1
NM_001101.5(ACTB):c.802G>C (p.Gly268Arg)	rs1554329269
NM_017637.6(BNC2):c.2663A>G (p.His888Arg)	rs1563774686

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