ClinVar Miner

List of variants studied for hereditary epidermal appendage anomaly by Department of Second Dental Center, Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine

Included ClinVar conditions (217):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) rs116998555 0.00113
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) rs147680216 0.00071
NM_025216.3(WNT10A):c.376+1G>A rs561503117 0.00002
NM_025216.3(WNT10A):c.310C>T (p.Arg104Cys) rs764658964 0.00001
NM_001399.5(EDA):c.1136T>C (p.Phe379Ser) rs2147519384
NM_001399.5(EDA):c.[866G>C;868A>T]
NM_025216.3(WNT10A):c.1036del (p.Cys346fs)
NM_025216.3(WNT10A):c.1066G>A (p.Gly356Ser)
NM_025216.3(WNT10A):c.1070C>T (p.Thr357Ile)
NM_025216.3(WNT10A):c.1124T>C (p.Met375Thr)
NM_025216.3(WNT10A):c.1127G>T (p.Cys376Phe)
NM_025216.3(WNT10A):c.26G>A (p.Trp9Ter)
NM_025216.3(WNT10A):c.310C>A (p.Arg104Ser)
NM_025216.3(WNT10A):c.521T>C (p.Leu174Pro)
NM_025216.3(WNT10A):c.756+1G>A rs1944637150
NM_025216.3(WNT10A):c.889G>A (p.Ala297Thr)

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