List of variants reported as pathogenic for autosomal recessive disease by Pars Genome Lab

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter)	rs776962899	0.00006
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter)	rs747349942	0.00003
NM_020632.3(ATP6V0A4):c.2257+1G>A	rs145809731	0.00001
NM_000260.4(MYO7A):c.4207G>T (p.Glu1403Ter)	rs916332384
NM_000329.3(RPE65):c.1451-1G>A	rs1317871521
NM_000492.4(CFTR):c.350G>A (p.Arg117His)	rs78655421
NM_001378789.1(CERS3):c.540G>A (p.Trp180Ter)
NM_004447.6(EPS8):c.1424T>G (p.Leu475Ter)	rs2135785787
NM_025114.4(CEP290):c.2390del (p.Lys797fs)	rs781670422

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