List of variants reported as likely benign for autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome by Illumina Laboratory Services, Illumina

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Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_001845.5(COL4A1):c.*1404T>C	rs56406633	0.02412
NM_001845.6(COL4A1):c.-103G>A	rs538721412	0.00227
NM_001845.6(COL4A1):c.651+4_651+5insCAC	rs760194800	0.00087
NM_001846.4(COL4A2):c.-101G>A	rs528084465	0.00084
NM_001845.6(COL4A1):c.-13C>G	rs60069761	0.00026
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr)	rs138269346	0.00021
NM_001845.6(COL4A1):c.2968+12A>G	rs752476229	0.00012
NM_001845.6(COL4A1):c.2285T>C (p.Val762Ala)	rs374930028	0.00009
NM_001845.6(COL4A1):c.4441C>T (p.Arg1481Trp)	rs199586038	0.00008
NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln)	rs376607450	0.00007
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.1110C>T (p.Pro370=)	rs368143409	0.00004
NM_001845.6(COL4A1):c.3743-15C>T	rs375583789	0.00004
NM_001845.6(COL4A1):c.994G>C (p.Gly332Arg)	rs150182714	0.00003
NM_001845.6(COL4A1):c.2571G>A (p.Ser857=)	rs376513801	0.00002
NM_001845.6(COL4A1):c.145-5T>C	rs749251030	0.00001
NM_001845.6(COL4A1):c.2985A>G (p.Pro995=)	rs200504781	0.00001
NM_001845.6(COL4A1):c.3054G>A (p.Leu1018=)	rs149543327	0.00001
NM_001845.6(COL4A1):c.4271C>T (p.Pro1424Leu)	rs760889798	0.00001
NM_001845.6(COL4A1):c.1838C>G (p.Pro613Arg)	rs146091004
NM_001845.6(COL4A1):c.3326-13dup	rs139122216

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