ClinVar Miner

List of variants studied for hereditary epidermal appendage anomaly by Molecular Genetics, Royal Melbourne Hospital

Included ClinVar conditions (217):
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Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.835G>A (p.Ala279Thr) rs61748181 0.02258
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_001143992.2(WRAP53):c.208G>T (p.Gly70Trp) rs976099760 0.00006
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter) rs751290509 0.00004
NM_004415.4(DSP):c.6947A>G (p.Tyr2316Cys) rs765245807 0.00001
NM_025132.4(WDR19):c.56T>G (p.Phe19Cys) rs1247231925 0.00001
NM_004415.4(DSP):c.3619delinsGGG (p.Arg1207fs)
NM_004415.4(DSP):c.5626del (p.Glu1876fs)
NM_004415.4(DSP):c.7217C>G (p.Ser2406Ter) rs2113701867
NM_004415.4(DSP):c.7968_7972del (p.Cys2656fs)
NM_025216.3(WNT10A):c.694del (p.Arg232fs) rs1575233692
NM_152365.3(KDF1):c.657C>A (p.Phe219Leu)
NM_198253.3(TERT):c.2130+5G>A rs777102890

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