List of variants reported as likely pathogenic for autosomal recessive disease by Genomics Facility, Ludwig-Maximilians-Universität München

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_007259.5(VPS45):c.758C>T (p.Pro253Leu)	rs143828923	0.00026
NM_001013838.3(CARMIL2):c.1334+1G>T	rs780608299
NM_016038.4(SBDS):c.629G>A (p.Cys210Tyr)	rs2129231218
NM_138387.4(G6PC3):c.337G>A (p.Gly113Arg)	rs2144147052

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