ClinVar Miner

List of variants reported as uncertain significance for epidermodysplasia verruciformis, susceptibility to, 1

Included ClinVar conditions (1):
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_152468.5(TMC8):c.1982C>T (p.Pro661Leu) rs139972217 0.00364
NM_152468.5(TMC8):c.1364G>A (p.Arg455Gln) rs151076155 0.00158
NM_001127198.5(TMC6):c.2384C>T (p.Pro795Leu) rs140852551 0.00140
NM_001127198.5(TMC6):c.1214G>A (p.Arg405His) rs149023121 0.00090
NM_152468.5(TMC8):c.1168G>A (p.Val390Ile) rs150546646 0.00073
NM_001127198.5(TMC6):c.73T>C (p.Tyr25His) rs765966901 0.00011
NM_001127198.5(TMC6):c.2354G>C (p.Arg785Thr) rs763777731 0.00009
NM_152468.5(TMC8):c.149+4G>T rs200226247 0.00009
NM_001127198.5(TMC6):c.633+8C>T rs369450669 0.00008
NM_001127198.5(TMC6):c.1175C>T (p.Thr392Met) rs765228601 0.00004
NM_152468.5(TMC8):c.1206C>G (p.Asp402Glu) rs746051835 0.00002
NM_001127198.5(TMC6):c.2407del (p.Gln803fs) rs1408101229 0.00001
NM_152468.5(TMC8):c.1525A>G (p.Ile509Val) rs1002160081 0.00001
NM_001127198.5(TMC6):c.1729A>G (p.Lys577Glu) rs1598844172
NM_001127198.5(TMC6):c.1972T>G (p.Phe658Val) rs1280636115
NM_152468.5(TMC8):c.1065C>G (p.Phe355Leu) rs760559122
NM_152468.5(TMC8):c.1325C>T (p.Ala442Val) rs2075272237
NM_152468.5(TMC8):c.1665-8C>G rs1598923439
NM_152468.5(TMC8):c.2120G>A (p.Gly707Glu) rs1434316891
NM_152468.5(TMC8):c.2161C>G (p.Pro721Ala) rs1187732896

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