List of variants reported as likely pathogenic for autosomal recessive disease by Sema4, Sema4

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000287.4(PEX6):c.406_407insT (p.Pro136fs)	rs1561830903	0.00001
NM_001130987.2(DYSF):c.5200del (p.Gln1734fs)	rs1558771348
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter)	rs1566713184
NM_206933.4(USH2A):c.8266del (p.Ser2756fs)	rs1558141330

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