ClinVar Miner

List of variants in gene APOB, LOC106560211 studied for hypobetalipoproteinemia

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.129G>C (p.Ala43=) rs12720850 0.00580
NM_000384.3(APOB):c.-79T>C rs535018963 0.00035
NM_000384.3(APOB):c.-71C>T rs886055597 0.00030
NM_000384.3(APOB):c.83-11C>T rs372452800 0.00017
NM_000384.3(APOB):c.35T>C (p.Leu12Pro) rs758450840 0.00015
NM_000384.3(APOB):c.36G>T (p.Leu12=) rs1431567486 0.00011
NM_000384.3(APOB):c.166T>C (p.Tyr56His) rs150496608 0.00004
NM_000384.3(APOB):c.82+6T>G rs747089573 0.00004
NM_000384.3(APOB):c.192C>T (p.Val64=) rs775528000 0.00003
NM_000384.3(APOB):c.218C>A (p.Ala73Asp) rs377171241 0.00003
NM_000384.3(APOB):c.133C>G (p.Arg45Gly) rs779776455 0.00002
NM_000384.3(APOB):c.231C>T (p.Asn77=) rs1004389290 0.00002
NM_000384.3(APOB):c.85G>A (p.Glu29Lys) rs768728964 0.00002
NM_000384.3(APOB):c.-82C>A rs1255668789 0.00001
NM_000384.3(APOB):c.107G>C (p.Ser36Thr) rs200464882 0.00001
NM_000384.3(APOB):c.108C>T (p.Ser36=) rs746086204 0.00001
NM_000384.3(APOB):c.141G>A (p.Lys47=) rs966624272 0.00001
NM_000384.3(APOB):c.148C>T (p.Arg50Trp) rs749903604 0.00001
NM_000384.3(APOB):c.152A>G (p.Lys51Arg) rs764776276 0.00001
NM_000384.3(APOB):c.168T>C (p.Tyr56=) rs761116238 0.00001
NM_000384.3(APOB):c.180T>C (p.Ser60=) rs1225537247 0.00001
NM_000384.3(APOB):c.187G>A (p.Gly63Arg) rs904819460 0.00001
NM_000384.3(APOB):c.215G>T (p.Ser72Ile) rs759881866 0.00001
NM_000384.3(APOB):c.81C>G (p.Ala27=) rs768732556 0.00001
NM_000384.3(APOB):c.82+12G>C rs757119717 0.00001
NM_000384.3(APOB):c.83-10T>C rs762185387 0.00001
NM_000384.3(APOB):c.83-7C>T rs924078369 0.00001
NM_000384.3(APOB):c.-96T>A rs1266180253
NM_000384.3(APOB):c.109C>T (p.Leu37=)
NM_000384.3(APOB):c.121+16A>G
NM_000384.3(APOB):c.121+18G>T rs1664183753
NM_000384.3(APOB):c.122-2A>G
NM_000384.3(APOB):c.129G>A (p.Ala43=) rs12720850
NM_000384.3(APOB):c.133C>T (p.Arg45Ter)
NM_000384.3(APOB):c.134G>A (p.Arg45Gln)
NM_000384.3(APOB):c.143A>T (p.His48Leu) rs1415387096
NM_000384.3(APOB):c.144C>A (p.His48Gln)
NM_000384.3(APOB):c.144C>T (p.His48=)
NM_000384.3(APOB):c.147C>A (p.Leu49=)
NM_000384.3(APOB):c.151A>C (p.Lys51Gln) rs1664155102
NM_000384.3(APOB):c.153G>A (p.Lys51=)
NM_000384.3(APOB):c.154T>C (p.Tyr52His)
NM_000384.3(APOB):c.159A>G (p.Thr53=) rs1188239237
NM_000384.3(APOB):c.186T>C (p.Ser62=)
NM_000384.3(APOB):c.18C>T (p.Pro6=) rs935727658
NM_000384.3(APOB):c.18_26del (p.9LAL[1])
NM_000384.3(APOB):c.18_27delinsT (p.9_11LAL[1]) rs1572806409
NM_000384.3(APOB):c.194C>T (p.Pro65Leu) rs1224871215
NM_000384.3(APOB):c.196G>C (p.Gly66Arg)
NM_000384.3(APOB):c.204T>C (p.Ala68=)
NM_000384.3(APOB):c.205G>A (p.Asp69Asn) rs2103388885
NM_000384.3(APOB):c.21G>A (p.Ala7=)
NM_000384.3(APOB):c.225G>A (p.Arg75=)
NM_000384.3(APOB):c.226_237+1del rs2103388847
NM_000384.3(APOB):c.22CTG[3] (p.Leu9dup) rs1060500237
NM_000384.3(APOB):c.237+7A>T rs2103388840
NM_000384.3(APOB):c.237+92G>T rs661665
NM_000384.3(APOB):c.238-19T>C
NM_000384.3(APOB):c.238-19del
NM_000384.3(APOB):c.238-6T>C rs200048290
NM_000384.3(APOB):c.24G>A (p.Leu8=) rs1664203555
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
NM_000384.3(APOB):c.26TGGCGCTGC[3] (p.9LAL[3]) rs17240441
NM_000384.3(APOB):c.28_29delinsCTGCT (p.Ala10delinsLeuLeu) rs1572806387
NM_000384.3(APOB):c.30G>C (p.Ala10=)
NM_000384.3(APOB):c.35_47delinsCTGCGCT (p.Leu12_Ala16delinsProAlaLeu) rs878853971
NM_000384.3(APOB):c.44_49del (p.Pro15_Ala16del)
NM_000384.3(APOB):c.45T>C (p.Pro15=)
NM_000384.3(APOB):c.49C>T (p.Leu17=)
NM_000384.3(APOB):c.49CTG[5] (p.Leu22del) rs745520533
NM_000384.3(APOB):c.49CTG[7] (p.Leu22dup) rs745520533
NM_000384.3(APOB):c.49CTG[8] (p.Leu21_Leu22dup) rs745520533
NM_000384.3(APOB):c.4G>A (p.Asp2Asn)
NM_000384.3(APOB):c.64C>T (p.Leu22=)
NM_000384.3(APOB):c.69G>A (p.Ala23=)
NM_000384.3(APOB):c.71G>A (p.Gly24Asp)
NM_000384.3(APOB):c.78_82+5del
NM_000384.3(APOB):c.82+10C>T rs2103390378
NM_000384.3(APOB):c.82+16C>T
NM_000384.3(APOB):c.82+2T>C
NM_000384.3(APOB):c.82+8C>A rs932043593
NM_000384.3(APOB):c.82+8C>G rs932043593
NM_000384.3(APOB):c.83-16T>C
NM_000384.3(APOB):c.83-18C>A
NM_000384.3(APOB):c.8C>T (p.Pro3Leu) rs1448292619
NM_000384.3(APOB):c.96G>A (p.Leu32=)

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