List of variants studied for autosomal recessive disease by Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)

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Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)	rs5030857	0.00057
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)	rs5030853	0.00034
NM_000277.3(PAH):c.1066-11G>A	rs5030855	0.00028
NM_001017420.3(ESCO2):c.1132-7A>G	rs80359862	0.00007
NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter)	rs587783211	0.00006
NM_022464.5(SIL1):c.1030-9G>A	rs370290043	0.00006
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter)	rs121908073	0.00006
NM_014264.5(PLK4):c.1299_1303del (p.Phe433fs)	rs724159996	0.00003
NM_000336.3(SCNN1B):c.1542+1G>A	rs550424284	0.00002
NM_000070.3(CAPN3):c.1128G>A (p.Trp376Ter)
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del)	rs111033232
NM_000277.3(PAH):c.833C>A (p.Thr278Asn)	rs62507262
NM_001127671.2(LIFR):c.653dup (p.Glu219fs)	rs886042160
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)	rs118204051
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del)	rs767004810
NM_006765.4(TUSC3):c.119dup (p.Gly41fs)
NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter)	rs727504103
NM_018669.6(WDR4):c.509_510delinsTT (p.Arg170Leu)
NM_020247.5(COQ8A):c.1088dup (p.Val364fs)
NM_020247.5(COQ8A):c.1467dup (p.Asn490fs)
NM_021800.3(DNAJC12):c.214C>T (p.Arg72Ter)	rs569240271
NM_024685.4(BBS10):c.728_731del (p.Lys243fs)	rs786204671
NM_024685.4(BBS10):c.924G>T (p.Leu308Phe)
NM_052989.3(IFT122):c.1288A>G (p.Ile430Val)
NM_080680.3(COL11A2):c.2087_2090del (p.Glu696fs)	rs1583335192
NM_138775.3(ALKBH8):c.1651C>T (p.Arg551Ter)	rs375189195
NM_177400.3(NKX6-2):c.287_288dup (p.Ala97fs)

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