ClinVar Miner

List of variants in gene BPTF reported by Baylor Genetics

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_182641.4(BPTF):c.3058G>A (p.Asp1020Asn) rs201720584 0.00011
NM_182641.4(BPTF):c.6874G>A (p.Glu2292Lys) rs1374856931 0.00002
NM_182641.4(BPTF):c.6952G>A (p.Ala2318Thr) rs1485631536 0.00001
NM_182641.4(BPTF):c.1355A>G (p.Asn452Ser) rs749559945
NM_182641.4(BPTF):c.1463A>G (p.Glu488Gly)
NM_182641.4(BPTF):c.1864+607T>G rs2060005250
NM_182641.4(BPTF):c.2366del (p.Asn789fs) rs1555639076
NM_182641.4(BPTF):c.2482dup (p.Glu828fs) rs1555639411
NM_182641.4(BPTF):c.2798A>T (p.Lys933Met) rs753210939
NM_182641.4(BPTF):c.2982_2992+1del rs1555649483
NM_182641.4(BPTF):c.3107T>C (p.Val1036Ala)
NM_182641.4(BPTF):c.4838_4839del (p.Val1613fs) rs1555652383
NM_182641.4(BPTF):c.5296A>T (p.Thr1766Ser) rs2062757704
NM_182641.4(BPTF):c.5392G>A (p.Ala1798Thr) rs1425998598
NM_182641.4(BPTF):c.7426C>G (p.Gln2476Glu) rs1436098298
NM_182641.4(BPTF):c.7566G>T (p.Lys2522Asn)
NM_182641.4(BPTF):c.8552T>G (p.Met2851Arg) rs2069336193
NM_182641.4(BPTF):c.8609T>G (p.Met2870Arg) rs782736894
NM_182641.4(BPTF):c.8701A>T (p.Lys2901Ter) rs1555693714
NM_182641.4(BPTF):c.961A>G (p.Ile321Val) rs770051470
NM_182641.4(BPTF):c.989del (p.Leu330fs) rs1135401778
Single allele

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