ClinVar Miner

List of variants studied for T-cell immunodeficiency with epidermodysplasia verruciformis

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_004310.5(RHOH):c.144T>C (p.Asp48=) rs76788449 0.00148
NM_004310.5(RHOH):c.42T>C (p.Ala14=) rs114176176 0.00056
NM_004310.5(RHOH):c.202A>G (p.Ile68Val) rs200579964 0.00020
NM_004310.5(RHOH):c.511G>A (p.Val171Ile) rs114085656 0.00016
NM_004310.5(RHOH):c.219C>T (p.Tyr73=) rs768275793 0.00014
NM_004310.5(RHOH):c.231C>T (p.Asp77=) rs145528494 0.00011
NM_004310.5(RHOH):c.408G>A (p.Gly136=) rs368977127 0.00009
NM_004310.5(RHOH):c.391G>A (p.Val131Ile) rs372713940 0.00005
NM_004310.5(RHOH):c.27G>A (p.Leu9=) rs764310455 0.00004
NM_004310.5(RHOH):c.498C>T (p.Ala166=) rs371722683 0.00004
NM_004310.5(RHOH):c.495C>T (p.Cys165=) rs774982598 0.00003
NM_004310.5(RHOH):c.546C>T (p.Leu182=) rs781552168 0.00002
NM_004310.5(RHOH):c.132C>T (p.Asp44=) rs773671410 0.00001
NM_004310.5(RHOH):c.181G>A (p.Gly61Ser) rs1000856485 0.00001
NM_004310.5(RHOH):c.189C>T (p.Asp63=) rs1346989432 0.00001
NM_004310.5(RHOH):c.263A>G (p.His88Arg) rs115314968 0.00001
NM_004310.5(RHOH):c.33C>T (p.Gly11=) rs200253960 0.00001
NM_004310.5(RHOH):c.390C>T (p.Cys130=) rs772482266 0.00001
NM_004310.5(RHOH):c.445C>T (p.Leu149=) rs759717838 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.75C>T (p.Thr25=) rs758225526 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.105C>T (p.Pro35=) rs2109589659
NM_004310.5(RHOH):c.114C>T (p.Tyr38=)
NM_004310.5(RHOH):c.126G>A (p.Gly42=)
NM_004310.5(RHOH):c.126G>C (p.Gly42=)
NM_004310.5(RHOH):c.165C>T (p.Gly55=) rs1391559187
NM_004310.5(RHOH):c.174C>T (p.Asp58=)
NM_004310.5(RHOH):c.180C>T (p.Ala60=)
NM_004310.5(RHOH):c.188A>T (p.Asp63Val) rs2109590422
NM_004310.5(RHOH):c.18G>A (p.Lys6=)
NM_004310.5(RHOH):c.190G>T (p.Ala64Ser)
NM_004310.5(RHOH):c.192C>T (p.Ala64=)
NM_004310.5(RHOH):c.207G>A (p.Arg69=) rs1196654428
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.252T>G (p.Ser84=)
NM_004310.5(RHOH):c.280T>C (p.Leu94=) rs1579353654
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.336G>A (p.Leu112=)
NM_004310.5(RHOH):c.339G>A (p.Val113=)
NM_004310.5(RHOH):c.395A>G (p.Asn132Ser)
NM_004310.5(RHOH):c.399C>T (p.Ala133=)
NM_004310.5(RHOH):c.401T>C (p.Met134Thr)
NM_004310.5(RHOH):c.415C>G (p.Leu139Val)
NM_004310.5(RHOH):c.415C>T (p.Leu139=) rs1486441608
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.469C>A (p.Arg157=)
NM_004310.5(RHOH):c.48G>C (p.Gly16=)
NM_004310.5(RHOH):c.503G>A (p.Arg168Gln)
NM_004310.5(RHOH):c.510C>G (p.Ala170=) rs61731758
NM_004310.5(RHOH):c.510C>T (p.Ala170=) rs61731758
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.558T>C (p.Asn186=)
NM_004310.5(RHOH):c.570C>T (p.Ile190=) rs2109593740
NM_004310.5(RHOH):c.78C>T (p.Ser26=)
NM_004310.5(RHOH):c.88C>T (p.Pro30Ser) rs1434343798
NM_004310.5(RHOH):c.99C>T (p.Tyr33=)

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