ClinVar Miner

List of variants in gene HR reported as likely benign for Marie Unna hereditary hypotrichosis

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_005144.4(HR):c.*218T>C rs74869265
NM_005144.4(HR):c.*81C>T rs114329519
NM_005144.4(HR):c.*820G>C rs142767236
NM_005144.4(HR):c.*82G>T rs112057122
NM_005144.4(HR):c.*931T>C rs76436208
NM_005144.4(HR):c.1055C>T (p.Ala352Val) rs115396678
NM_005144.4(HR):c.1190G>A (p.Cys397Tyr) rs73549523
NM_005144.4(HR):c.1461C>T (p.Cys487=) rs78703240
NM_005144.4(HR):c.1507G>A (p.Ala503Thr) rs115643651
NM_005144.4(HR):c.1583A>G (p.Gln528Arg) rs74596676
NM_005144.4(HR):c.1859G>A (p.Arg620Gln) rs117197822
NM_005144.4(HR):c.188C>G (p.Pro63Arg) rs73549525
NM_005144.4(HR):c.2104G>T (p.Gly702Trp) rs138941448
NM_005144.4(HR):c.2467G>A (p.Gly823Ser) rs76547188
NM_005144.4(HR):c.2570G>A (p.Arg857His) rs114871775
NM_005144.4(HR):c.2733C>A (p.Ser911Arg) rs11990451
NM_005144.4(HR):c.27G>A (p.Lys9=) rs77620102
NM_005144.4(HR):c.3339C>A (p.Pro1113=) rs112173147
NM_005144.4(HR):c.3470C>G (p.Pro1157Arg) rs201030061
NM_005144.4(HR):c.956C>T (p.Pro319Leu) rs77758962

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