List of variants reported as benign for encephaloclastic disorder by Genome-Nilou Lab

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Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_001846.4(COL4A2):c.4083T>C (p.Thr1361=)	rs438758	0.98496
NM_001846.4(COL4A2):c.3807T>C (p.Gly1269=)	rs409858	0.94356
NM_001846.4(COL4A2):c.3804T>A (p.Pro1268=)	rs439831	0.94355
NM_001846.4(COL4A2):c.4290C>T (p.Phe1430=)	rs4771683	0.94122
NM_001846.4(COL4A2):c.297G>A (p.Thr99=)	rs4238272	0.93420
NM_001845.6(COL4A1):c.616-11G>C	rs645114	0.84459
NM_001846.4(COL4A2):c.4515A>G (p.Pro1505=)	rs445348	0.84408
NM_001846.4(COL4A2):c.1012-23G>A	rs7326449	0.74513
NM_001845.6(COL4A1):c.3877-9C>T	rs589985	0.63996
NM_001846.4(COL4A2):c.1550G>A (p.Arg517Lys)	rs7990383	0.59592
NM_001846.4(COL4A2):c.1777-7C>T	rs3803236	0.58770
NM_001846.4(COL4A2):c.1488G>A (p.Pro496=)	rs7990214	0.58092
NM_001845.6(COL4A1):c.859-10T>C	rs677877	0.57082
NM_001845.6(COL4A1):c.903+18G>A	rs482757	0.56804
NM_001845.6(COL4A1):c.780+7G>A	rs598893	0.56762
NM_001846.4(COL4A2):c.3877+29G>A	rs2281968	0.56117
NM_001845.6(COL4A1):c.432T>A (p.Ala144=)	rs532625	0.42890
NM_001845.6(COL4A1):c.19G>C (p.Val7Leu)	rs9515185	0.36168
NM_001845.6(COL4A1):c.4470C>T (p.Ala1490=)	rs1133219	0.35362
NM_001845.6(COL4A1):c.4150+38C>G	rs1816884	0.33505
NM_001846.4(COL4A2):c.1179C>T (p.Ile393=)	rs74941798	0.30311
NM_001846.4(COL4A2):c.1095G>A (p.Pro365=)	rs76425569	0.28294
NM_001846.4(COL4A2):c.2588-11C>T	rs9521803	0.25564
NM_001846.4(COL4A2):c.2152C>T (p.Pro718Ser)	rs9583500	0.23344
NM_001846.4(COL4A2):c.4089G>A (p.Ala1363=)	rs4773199	0.23132
NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His)	rs3742207
NM_001846.4(COL4A2):c.862-41G>A	rs7984100

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