ClinVar Miner

List of variants in gene BPTF reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_182641.4(BPTF):c.4292T>C (p.Val1431Ala) rs142307832 0.00240
NM_182641.4(BPTF):c.3644T>C (p.Ile1215Thr) rs139231512 0.00123
NM_182641.4(BPTF):c.287G>C (p.Gly96Ala) rs1055192173 0.00110
NM_182641.4(BPTF):c.8742A>G (p.Lys2914=) rs372946073 0.00012
NM_182641.4(BPTF):c.7321C>G (p.Gln2441Glu) rs782167494 0.00010
NM_182641.4(BPTF):c.3560A>T (p.Asn1187Ile) rs779260084 0.00001
NM_182641.4(BPTF):c.1026C>T (p.His342=)
NM_182641.4(BPTF):c.1281C>G (p.Asp427Glu)
NM_182641.4(BPTF):c.132_143del (p.Ser46_Gly49del)
NM_182641.4(BPTF):c.135C>T (p.Gly45=)
NM_182641.4(BPTF):c.1649C>T (p.Ala550Val)
NM_182641.4(BPTF):c.1783GAA[1] (p.Glu596del) rs1555628859
NM_182641.4(BPTF):c.1864+609A>G
NM_182641.4(BPTF):c.1864+641C>T rs2060006969
NM_182641.4(BPTF):c.1865-5686A>G
NM_182641.4(BPTF):c.2076A>G (p.Gln692=)
NM_182641.4(BPTF):c.211A>C (p.Ser71Arg)
NM_182641.4(BPTF):c.229CCG[5] (p.Pro82del)
NM_182641.4(BPTF):c.229CCG[7] (p.Pro82_Ala83insPro)
NM_182641.4(BPTF):c.2376T>C (p.Pro792=)
NM_182641.4(BPTF):c.2535A>T (p.Gly845=)
NM_182641.4(BPTF):c.2583G>A (p.Glu861=)
NM_182641.4(BPTF):c.291C>G (p.Gly97=)
NM_182641.4(BPTF):c.297C>G (p.Gly99=)
NM_182641.4(BPTF):c.3097A>C (p.Ser1033Arg)
NM_182641.4(BPTF):c.3383C>T (p.Ala1128Val)
NM_182641.4(BPTF):c.3385A>G (p.Asn1129Asp)
NM_182641.4(BPTF):c.343A>C (p.Thr115Pro)
NM_182641.4(BPTF):c.3447A>T (p.Arg1149Ser)
NM_182641.4(BPTF):c.3629G>C (p.Gly1210Ala)
NM_182641.4(BPTF):c.3846_3851dup (p.Ser1283_Glu1284insAspSer)
NM_182641.4(BPTF):c.3905G>A (p.Ser1302Asn)
NM_182641.4(BPTF):c.3914A>G (p.Asp1305Gly) rs79076582
NM_182641.4(BPTF):c.4035_4036del (p.Cys1345_Glu1346delinsTer) rs2146936860
NM_182641.4(BPTF):c.4050G>A (p.Pro1350=)
NM_182641.4(BPTF):c.4137A>G (p.Ile1379Met)
NM_182641.4(BPTF):c.4153A>G (p.Thr1385Ala)
NM_182641.4(BPTF):c.4155T>A (p.Thr1385=) rs138069789
NM_182641.4(BPTF):c.4184C>T (p.Ser1395Phe)
NM_182641.4(BPTF):c.4269G>A (p.Leu1423=)
NM_182641.4(BPTF):c.4384A>G (p.Ile1462Val)
NM_182641.4(BPTF):c.4443C>T (p.Ser1481=)
NM_182641.4(BPTF):c.4533C>T (p.Asp1511=)
NM_182641.4(BPTF):c.4720A>C (p.Asn1574His) rs1568051483
NM_182641.4(BPTF):c.4863A>T (p.Ala1621=)
NM_182641.4(BPTF):c.4923C>T (p.Gly1641=)
NM_182641.4(BPTF):c.5079T>C (p.Phe1693=)
NM_182641.4(BPTF):c.5283G>A (p.Pro1761=)
NM_182641.4(BPTF):c.5301del (p.Thr1766_Trp1767insTer) rs2146968484
NM_182641.4(BPTF):c.5304-8C>T
NM_182641.4(BPTF):c.5498G>A (p.Arg1833Gln)
NM_182641.4(BPTF):c.5760G>A (p.Leu1920=)
NM_182641.4(BPTF):c.5807C>T (p.Thr1936Ile) rs775976716
NM_182641.4(BPTF):c.5810G>A (p.Ser1937Asn)
NM_182641.4(BPTF):c.5999-326C>T
NM_182641.4(BPTF):c.6236G>A (p.Arg2079Gln)
NM_182641.4(BPTF):c.6353A>G (p.Gln2118Arg)
NM_182641.4(BPTF):c.6369A>G (p.Ser2123=)
NM_182641.4(BPTF):c.6795A>G (p.Pro2265=)
NM_182641.4(BPTF):c.7111A>G (p.Thr2371Ala)
NM_182641.4(BPTF):c.7840C>T (p.Leu2614=)
NM_182641.4(BPTF):c.7873G>A (p.Glu2625Lys)
NM_182641.4(BPTF):c.8043A>C (p.Pro2681=)
NM_182641.4(BPTF):c.8061T>A (p.Pro2687=)
NM_182641.4(BPTF):c.8102C>T (p.Thr2701Met)
NM_182641.4(BPTF):c.818C>T (p.Ala273Val)
NM_182641.4(BPTF):c.81GCC[6] (p.Pro31_Thr32insProPro)
NM_182641.4(BPTF):c.8670del (p.Cys2890fs) rs2148606524

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