List of variants reported as likely pathogenic for autosomal recessive disease by Eurofins-Biomnis

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)	rs1800111	0.00208
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs)	rs397515338	0.00019
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)	rs149914792	0.00008
NM_021828.5(HPSE2):c.1516C>T (p.Arg506Ter)	rs267606866	0.00001
NM_153240.5(NPHP3):c.3494G>A (p.Arg1165Gln)	rs138630766	0.00001
NM_000070.3(CAPN3):c.146G>A (p.Arg49His)	rs863224958
NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg)	rs1559878862
NM_000091.5(COL4A3):c.2480G>A (p.Gly827Glu)
NM_000091.5(COL4A3):c.725G>A (p.Gly242Glu)	rs1574699806
NM_015102.5(NPHP4):c.2686del (p.Arg896fs)

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