ClinVar Miner

List of variants reported as uncertain significance for T-cell immunodeficiency with epidermodysplasia verruciformis by Invitae

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_004310.5(RHOH):c.202A>G (p.Ile68Val) rs200579964 0.00020
NM_004310.5(RHOH):c.391G>A (p.Val131Ile) rs372713940 0.00005
NM_004310.5(RHOH):c.181G>A (p.Gly61Ser) rs1000856485 0.00001
NM_004310.5(RHOH):c.263A>G (p.His88Arg) rs115314968 0.00001
NM_004310.5(RHOH):c.470G>A (p.Arg157Gln) rs775914843 0.00001
NM_004310.5(RHOH):c.496G>A (p.Ala166Thr) rs750167394 0.00001
NM_004310.5(RHOH):c.538A>T (p.Arg180Trp) rs747353195 0.00001
NM_004310.5(RHOH):c.89C>T (p.Pro30Leu) rs777698365 0.00001
NC_000004.11:g.(?_40244987)_(40245602_?)dup
NM_004310.5(RHOH):c.101A>G (p.Lys34Arg)
NM_004310.5(RHOH):c.188A>T (p.Asp63Val) rs2109590422
NM_004310.5(RHOH):c.190G>T (p.Ala64Ser)
NM_004310.5(RHOH):c.226G>C (p.Ala76Pro) rs1729530330
NM_004310.5(RHOH):c.241A>G (p.Met81Val) rs1729532222
NM_004310.5(RHOH):c.29T>C (p.Val10Ala) rs2109588980
NM_004310.5(RHOH):c.310A>G (p.Ser104Gly)
NM_004310.5(RHOH):c.329del (p.Pro110fs) rs2109591580
NM_004310.5(RHOH):c.331G>C (p.Val111Leu) rs767409335
NM_004310.5(RHOH):c.395A>G (p.Asn132Ser)
NM_004310.5(RHOH):c.401T>C (p.Met134Thr)
NM_004310.5(RHOH):c.415C>G (p.Leu139Val)
NM_004310.5(RHOH):c.422A>G (p.Gln141Arg) rs2109592369
NM_004310.5(RHOH):c.436A>C (p.Lys146Gln) rs2109592421
NM_004310.5(RHOH):c.503G>A (p.Arg168Gln)
NM_004310.5(RHOH):c.515A>G (p.Asn172Ser)
NM_004310.5(RHOH):c.530G>A (p.Arg177Gln) rs1244021714
NM_004310.5(RHOH):c.537_539del (p.Arg181del) rs757821004
NM_004310.5(RHOH):c.88C>T (p.Pro30Ser) rs1434343798

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