ClinVar Miner

List of variants reported as likely benign for Atrichia with papular lesions

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Total variants: 15
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HGVS dbSNP
NM_005144.4(HR):c.*82G>T rs112057122
NM_005144.4(HR):c.*894G>A rs564636595
NM_005144.4(HR):c.1517A>G (p.Glu506Gly) rs112016555
NM_005144.4(HR):c.1557-13G>A rs113141789
NM_005144.4(HR):c.1859G>A (p.Arg620Gln) rs117197822
NM_005144.4(HR):c.2507G>T (p.Arg836Leu) rs201739936
NM_005144.4(HR):c.2862T>A (p.Ala954=) rs148407688
NM_005144.4(HR):c.3250G>A (p.Ala1084Thr) rs201956860
NM_005144.4(HR):c.333C>T (p.Cys111=) rs143223831
NM_005144.4(HR):c.3470C>G (p.Pro1157Arg) rs201030061
NM_005144.4(HR):c.37A>G (p.Thr13Ala) rs143316642
NM_005144.5(HR):c.*75G>A
NM_005144.5(HR):c.301G>A (p.Glu101Lys)
NM_005144.5(HR):c.3249C>A (p.Gly1083=)
NM_005144.5(HR):c.3507+12G>A

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