ClinVar Miner

List of variants reported as benign for Beaded hair

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Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_002282.3(KRT83):c.1477C>T (p.His493Tyr) rs2857671 0.73262
NM_002282.3(KRT83):c.750+15A>G rs2248619 0.71624
NM_002282.3(KRT83):c.1332T>C (p.Asp444=) rs2857670 0.71131
NM_002282.3(KRT83):c.*174C>T rs2852456 0.71024
NM_002282.3(KRT83):c.984C>T (p.Asn328=) rs2257286 0.41938
NM_002282.3(KRT83):c.1041+6A>G rs2270267 0.41906
NM_002282.3(KRT83):c.843C>T (p.Ala281=) rs2857669 0.41821
NM_002282.3(KRT83):c.1056A>G (p.Glu352=) rs2248473 0.41742
NM_002282.3(KRT83):c.1059T>C (p.Ala353=) rs2852468 0.41728
NM_002282.3(KRT83):c.*138C>T rs2857672 0.39671
NM_002282.3(KRT83):c.837C>G (p.Ile279Met) rs2852464 0.38611
NM_002282.3(KRT83):c.558C>T (p.Asn186=) rs3741715 0.32296
NM_002281.4(KRT81):c.735+4C>T rs12812669 0.23428
NM_002282.3(KRT83):c.445C>T (p.Arg149Cys) rs2857663 0.11683
NM_002282.3(KRT83):c.67T>G (p.Cys23Gly) rs61485872 0.01374
NM_002282.3(KRT83):c.1084G>A (p.Gly362Ser) rs140635030 0.01341
NM_002282.3(KRT83):c.1412G>A (p.Gly471Asp) rs147359482 0.01317
NM_002282.3(KRT83):c.601G>T (p.Glu201Ter) rs146753414 0.01263
NM_002282.3(KRT83):c.480T>C (p.Phe160=) rs11834565 0.00832
NM_002282.3(KRT83):c.312G>A (p.Ala104=) rs111267865 0.00509
NM_002282.3(KRT83):c.1338C>T (p.Cys446=) rs11836080 0.00309
NM_002282.3(KRT83):c.1042-4C>A rs200402665 0.00242
NM_002282.3(KRT83):c.1268G>C (p.Cys423Ser) rs148757217 0.00240
NM_002282.3(KRT83):c.768A>G (p.Gln256=) rs143202217 0.00170
NM_002282.3(KRT83):c.760A>G (p.Ile254Val) rs150867374 0.00168
NM_002282.3(KRT83):c.1327G>A (p.Gly443Arg) rs144061807 0.00091
NM_002282.3(KRT83):c.699C>T (p.Asn233=) rs186866078 0.00061
NM_002282.3(KRT83):c.1017C>T (p.Ala339=) rs143467763 0.00041
NM_002282.3(KRT83):c.877C>T (p.Arg293Cys) rs143037477 0.00031
NM_002282.3(KRT83):c.389G>A (p.Arg130His) rs139360978 0.00028
NM_002282.3(KRT83):c.*23G>T rs535186700 0.00027
NM_002282.3(KRT83):c.633C>T (p.Asn211=) rs140012906 0.00026
NM_002282.3(KRT83):c.1100G>A (p.Ser367Asn) rs528339841 0.00023
NM_002282.3(KRT83):c.452G>A (p.Cys151Tyr) rs201680950 0.00019
NM_002282.3(KRT83):c.676C>T (p.Arg226Cys) rs192947508 0.00015
NM_002282.3(KRT83):c.192C>A (p.Cys64Ter) rs199997738 0.00014
NM_002282.3(KRT83):c.790G>A (p.Val264Met) rs201459857 0.00012
NM_002282.3(KRT83):c.1423C>T (p.Pro475Ser) rs200232339 0.00009
NM_002282.3(KRT83):c.1041+5C>T rs377435485 0.00006
NM_002282.3(KRT83):c.828G>A (p.Met276Ile) rs200274404 0.00005
NM_002282.3(KRT83):c.945G>A (p.Arg315=) rs138807826 0.00004
NM_002282.3(KRT83):c.147C>A (p.Gly49=) rs542978203 0.00003
NM_002282.3(KRT83):c.497C>G (p.Thr166Ser) rs200690744 0.00003
NM_002282.3(KRT83):c.910A>T (p.Ser304Cys) rs770757336 0.00003
NM_002282.3(KRT83):c.593+15G>A rs756856491 0.00001
NM_002282.3(KRT83):c.*324del rs11285858
NM_002282.3(KRT83):c.363A>G (p.Arg121=) rs571144595
NM_002282.3(KRT83):c.520G>C (p.Val174Leu) rs181439241
NM_002282.3(KRT83):c.666C>T (p.Cys222=) rs2857667

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