ClinVar Miner

List of variants in gene BTD reported as uncertain significance for not provided

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu) rs151071780 0.00167
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169 0.00156
NM_001370658.1(BTD):c.339G>A (p.Pro113=) rs181743799 0.00133
NM_001370658.1(BTD):c.-148C>T rs774964227 0.00022
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser) rs201023772 0.00022
NM_001370658.1(BTD):c.1310T>C (p.Val437Ala) rs149690919 0.00017
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe) rs141131444 0.00012
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr) rs200327983 0.00008
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345 0.00004
NM_001370658.1(BTD):c.1536G>A (p.Thr512=) rs774052068 0.00004
NM_001370658.1(BTD):c.377C>G (p.Pro126Arg) rs371116229 0.00003
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser) rs397514377 0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176 0.00003
NM_001370658.1(BTD):c.1042G>A (p.Asp348Asn) rs769903360 0.00002
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692 0.00002
NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala) rs886058115 0.00001
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile) rs397514405 0.00001
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu) rs558477960 0.00001
NM_001370658.1(BTD):c.265G>C (p.Val89Leu) rs372416959 0.00001
NM_001370658.1(BTD):c.572G>A (p.Arg191His) rs112195009 0.00001
NM_001281723.3(BTD):c.-44G>T
NM_001370658.1(BTD):c.-17+4C>A rs780115477
NM_001370658.1(BTD):c.103G>A (p.Ala35Thr)
NM_001370658.1(BTD):c.1163T>C (p.Val388Ala) rs1553654038
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser) rs374141881
NM_001370658.1(BTD):c.1180T>C (p.Tyr394His)
NM_001370658.1(BTD):c.1259T>C (p.Leu420Pro) rs1575031012
NM_001370658.1(BTD):c.1264G>A (p.Val422Ile) rs776369447
NM_001370658.1(BTD):c.1278T>C (p.Leu426=) rs1559600608
NM_001370658.1(BTD):c.1292G>T (p.Gly431Val) rs397514419
NM_001370658.1(BTD):c.163G>T (p.Ala55Ser)
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly) rs397514354
NM_001370658.1(BTD):c.380A>G (p.His127Arg) rs886044240
NM_001370658.1(BTD):c.392A>G (p.Asp131Gly) rs772266503
NM_001370658.1(BTD):c.400-8dup rs397514361
NM_001370658.1(BTD):c.40G>C (p.Gly14Arg) rs119103232
NM_001370658.1(BTD):c.436G>A (p.Asp146Asn)
NM_001370658.1(BTD):c.606T>A (p.Asp202Glu)
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr) rs397514380
NM_001370658.1(BTD):c.64G>C (p.Ala22Pro) rs761112772
NM_001370658.1(BTD):c.682A>G (p.Ile228Val) rs398123140
NM_001370658.1(BTD):c.684A>G (p.Ile228Met) rs1131691897
NM_001370658.1(BTD):c.739G>T (p.Val247Leu) rs1443274190
NM_001370658.1(BTD):c.770C>T (p.Pro257Leu) rs398123141
NM_001370658.1(BTD):c.808G>A (p.Val270Ile)
NM_001370658.1(BTD):c.817G>C (p.Gly273Arg) rs762757117
NM_001370658.1(BTD):c.844C>T (p.His282Tyr) rs398123142

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