List of variants reported as uncertain significance for autosomal recessive disease by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_147127.5(EVC2):c.1470+3A>T	rs370769794	0.00007
NR_003051.4(RMRP):n.17C>T	rs772664375	0.00002
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg)	rs199810179	0.00001
NR_003051.4(RMRP):n.77C>T	rs902757638	0.00001
NM_000023.4(SGCA):c.434C>A (p.Ala145Glu)	rs372046855
NM_000070.3(CAPN3):c.679G>C (p.Ala227Pro)	rs1595822648
NM_000231.3(SGCG):c.613_614delinsTT (p.Ala205Phe)	rs1883002814
NM_001013693.3(LDLRAD2):c.*1998A>T	rs2152683273
NM_001013693.3(LDLRAD2):c.*2001C>G	rs2152683279
NM_014780.5(CUL7):c.3902C>G (p.Pro1301Arg)	rs766640818
NM_020779.4(WDR35):c.2874G>T (p.Lys958Asn)	rs1558328135

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