List of variants in gene HR reported as likely benign for atrichia with papular lesions

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_005144.5(HR):c.1859G>A (p.Arg620Gln)	rs117197822	0.02084
NM_005144.5(HR):c.*82G>T	rs112057122	0.01214
NM_005144.5(HR):c.*75G>A	rs114993748	0.00298
NM_005144.5(HR):c.2862T>A (p.Ala954=)	rs148407688	0.00225
NM_005144.5(HR):c.1557-13G>A	rs113141789	0.00205
NM_005144.5(HR):c.1517A>G (p.Glu506Gly)	rs112016555	0.00203
NM_005144.5(HR):c.3250G>A (p.Ala1084Thr)	rs201956860	0.00177
NM_005144.5(HR):c.3507+12G>A	rs79262499	0.00140
NM_005144.5(HR):c.333C>T (p.Cys111=)	rs143223831	0.00034
NM_005144.5(HR):c.3470C>G (p.Pro1157Arg)	rs201030061	0.00014
NM_005144.5(HR):c.*894G>A	rs564636595	0.00009
NM_005144.5(HR):c.301G>A (p.Glu101Lys)	rs28585381	0.00003
NM_005144.5(HR):c.2507G>T (p.Arg836Leu)	rs201739936
NM_005144.5(HR):c.3249C>A (p.Gly1083=)	rs552153164
NM_005144.5(HR):c.37A>G (p.Thr13Ala)	rs143316642

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