List of variants reported as uncertain significance for Porencephalic cyst by Illumina Laboratory Services, Illumina

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Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser)	rs145172612	0.00031
NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu)	rs150129180	0.00025
NM_001845.6(COL4A1):c.3742+14G>A	rs377503687	0.00025
NM_001845.6(COL4A1):c.388-11T>C	rs201801894	0.00024
NM_001845.6(COL4A1):c.*477G>T	rs886049955	0.00014
NM_001845.6(COL4A1):c.2968+12A>G	rs752476229	0.00012
NM_001845.6(COL4A1):c.-71C>G	rs867117624	0.00011
NM_001845.6(COL4A1):c.2160C>T (p.Gly720=)	rs781133776	0.00011
NM_001845.6(COL4A1):c.280-12C>T	rs200121908	0.00010
NM_001845.6(COL4A1):c.1858G>C (p.Ala620Pro)	rs372803920	0.00006
NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu)	rs375787099	0.00006
NM_001845.6(COL4A1):c.*6C>G	rs762512053	0.00001
NM_001845.6(COL4A1):c.-20G>T	rs886049965	0.00001
NM_001845.6(COL4A1):c.2706G>A (p.Pro902=)	rs754208625	0.00001
NM_001845.6(COL4A1):c.2732C>T (p.Pro911Leu)	rs778143775	0.00001
NM_001845.6(COL4A1):c.*510A>G	rs886049954
NM_001845.6(COL4A1):c.*531T>A	rs886049953
NM_001845.6(COL4A1):c.*634AT[8]	rs886049952
NM_001845.6(COL4A1):c.*887del	rs886049951
NM_001845.6(COL4A1):c.3018T>G (p.Leu1006=)	rs886049959
NM_001845.6(COL4A1):c.4021+14T>A	rs755709828
NM_001845.6(COL4A1):c.766A>G (p.Thr256Ala)	rs886049962
NM_001845.6(COL4A1):c.82A>G (p.Lys28Glu)	rs886049964
NM_001846.4(COL4A2):c.413_414del	rs760146256
NM_001846.4(COL4A2):c.2317C>T (p.Pro773Ser)	rs886049976
NM_001846.4(COL4A2):c.4040-11_4040-8del	rs756684753
NM_001846.4(COL4A2):c.907C>T (p.Leu303=)	rs886049970

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