List of variants reported as likely benign for autosomal recessive disease by Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital

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Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_201384.3(PLEC):c.9925C>T (p.Arg3309Cys)	rs77303974	0.00503
NM_015046.7(SETX):c.472T>G (p.Leu158Val)	rs145438764	0.00347
NM_015340.4(LARS2):c.2602G>A (p.Glu868Lys)	rs34965084	0.00260
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)	rs41303255	0.00190
NM_144991.3(TSPEAR):c.44C>T (p.Ala15Val)	rs150107590	0.00180
NM_000302.4(PLOD1):c.77-3358C>T	rs534978828	0.00153
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)	rs41302239	0.00081
NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe)	rs199794705	0.00069
NM_004447.6(EPS8):c.197G>A (p.Arg66His)	rs77383735	0.00051
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala)	rs142303658	0.00038
NM_004560.4(ROR2):c.730C>T (p.Arg244Trp)	rs148340413	0.00035
NM_022168.4(IFIH1):c.2016del (p.Asp673fs)	rs773033563	0.00028
NM_198699.1(KRTAP10-12):c.248C>T (p.Ser83Leu)	rs200497262	0.00024
NM_004568.6(SERPINB6):c.430+3G>A	rs201080069	0.00021
NM_020458.4(TTC7A):c.1919+10C>T	rs201704252	0.00011
NM_000271.5(NPC1):c.180+8C>T	rs778096289	0.00010
NM_201384.3(PLEC):c.11077G>A (p.Ala3693Thr)	rs369497741	0.00009
NM_005422.4(TECTA):c.1621G>A (p.Val541Met)	rs370652301	0.00006
NM_005219.5(DIAPH1):c.117+9C>T	rs528279050	0.00003
NM_002292.4(LAMB2):c.4667C>T (p.Ala1556Val)	rs774045808	0.00001
NM_005982.4(SIX1):c.561-13C>T	rs1894946571	0.00001
NM_020247.5(COQ8A):c.1399-12C>T	rs377529632	0.00001
NM_138694.4(PKHD1):c.4844C>T (p.Thr1615Met)	rs147529495
NM_144991.3(TSPEAR):c.303+9641C>A	rs374354141
NM_153700.2(STRC):c.3681+11G>A	rs796781098

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