ClinVar Miner

List of variants reported as pathogenic for Marie Unna hereditary hypotrichosis

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
HR, 1-BP DEL, 1256C
HR, 1-BP DEL, 2147C
HR, 1-BP DEL, 3434C
HR, 2-BP DEL, 2847AG
HR, 21-BP DEL, NT1261
HR, IVS12DS, G-A, +1
NM_005144.4(HR):c.-218A>G rs267606869
NM_005144.4(HR):c.-249C>G rs267606868
NM_005144.4(HR):c.-315C>T rs267606867
NM_005144.4(HR):c.-320T>C rs387906382
NM_005144.4(HR):c.1837C>T (p.Arg613Ter) rs121434449
NM_005144.4(HR):c.2001_2004delCCAG
NM_005144.4(HR):c.2776+1G>A rs773764015
NM_005144.4(HR):c.3034G>A (p.Asp1012Asn) rs121434451
NM_005144.4(HR):c.3407T>A (p.Val1136Asp) rs121434448
NM_005144.4(HR):c.3526C>T (p.Gln1176Ter) rs121434450

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