ClinVar Miner

List of variants in gene BTD reported as likely benign for not provided

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250 0.01555
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_001281723.3(BTD):c.-74G>C rs7626148 0.01137
NM_001370658.1(BTD):c.250-249G>A rs115059967 0.01133
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_001370658.1(BTD):c.142A>G (p.Ile48Val) rs114092911 0.00722
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.1047G>A (p.Pro349=) rs140890299 0.00009
NM_001370658.1(BTD):c.39C>T (p.Cys13=) rs201564216 0.00005
NM_001370658.1(BTD):c.48C>T (p.Tyr16=) rs201823743 0.00005
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn) rs200337373 0.00003
NM_001370658.1(BTD):c.1311G>A (p.Val437=) rs753880468 0.00002
NM_001370658.1(BTD):c.*365dup
NM_001370658.1(BTD):c.399+33G>A
NM_001370658.1(BTD):c.714C>T (p.Leu238=) rs2125501926
NM_001370658.1(BTD):c.768C>A (p.Leu256=) rs775730599
NM_001370658.1(BTD):c.99C>T (p.His33=) rs397514337

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