List of variants studied for autosomal recessive disease by Medical Molecular Genetics Department, National Research Center

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000271.5(NPC1):c.3507C>G (p.Ser1169Arg)	rs2058596611
NM_000271.5(NPC1):c.3590C>T (p.Ser1197Phe)	rs1234099104
NM_001814.6(CTSC):c.622_628del (p.His208fs)
NM_022336.4(EDAR):c.204del (p.Tyr69fs)	rs1697322263
NM_145861.4(EDARADD):c.570C>A (p.Asp190Glu)	rs200017138
NM_145861.4(EDARADD):c.85G>A (p.Glu29Lys)	rs1657345576

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