List of variants reported as uncertain significance by Medical Genetics Lab, Policlinico S. Orsola.Malpighi

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 2p23.3(chr2:24807000-25700000)x3
GRCh37/hg19 2q31.1(chr2:172344870-173038935)x4
GRCh37/hg19 5q31.1(chr5:131484039-132998360)x3
NCBI36/hg18 16q24.3(chr16:87891000-88572000)
NC_000008.10:g.[103335671_103389222del;103662755_103870397del]
NM_003106.4(SOX2):c.20C>T (p.Thr7Met)	rs1714834018
NM_006445.4(PRPF8):c.5619+2T>C	rs1911406583
NM_201596.3(CACNB2):c.208C>T (p.Arg70Cys)	rs760538597
Single allele

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