List of variants reported as uncertain significance for autosomal recessive disease by Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)	rs149798764	0.00024
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)	rs79436363	0.00015
NM_021628.3(ALOXE3):c.1486C>T (p.Arg496Trp)	rs867780319	0.00007
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser)	rs756815669	0.00006
NM_000320.3(QDPR):c.49G>C (p.Gly17Arg)	rs757483045	0.00003
NM_153676.4(USH1C):c.1516A>G (p.Asn506Asp)	rs868001349	0.00001
NM_000124.4(ERCC6):c.2523G>T (p.Met841Ile)
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly)	rs397508170
NM_001040616.3(LINS1):c.1529T>C (p.Leu510Pro)
NM_001139.3(ALOX12B):c.1214T>G (p.Ile405Ser)	rs369593974
NM_001139.3(ALOX12B):c.628TTC[1] (p.Phe211del)	rs1026084346
NM_001814.6(CTSC):c.1145A>G (p.His382Arg)
NM_002485.5(NBN):c.350CTT[1] (p.Ser118del)	rs730881841
NM_005529.7(HSPG2):c.7684C>T (p.Pro2562Ser)	rs755215244
NM_014780.5(CUL7):c.2434C>T (p.His812Tyr)	rs1561885852
NM_014780.5(CUL7):c.4406A>G (p.Gln1469Arg)	rs1561871681
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys)	rs387907135
NM_020964.3(EPG5):c.3752T>C (p.Leu1251Pro)	rs1568149047

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