ClinVar Miner

List of variants studied for Berardinelli-Seip congenital lipodystrophy by OMIM

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_006412.4(AGPAT2):c.589-2A>G rs116807569 0.00043
NM_006412.4(AGPAT2):c.377dup (p.Pro128fs) rs387906355 0.00008
NM_006412.4(AGPAT2):c.570C>A (p.Tyr190Ter) rs121908926 0.00002
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs) rs786205071 0.00001
NM_001122955.4(BSCL2):c.604C>T (p.Arg202Ter) rs137852970 0.00001
NM_001122955.4(BSCL2):c.757G>T (p.Glu253Ter) rs137852975 0.00001
NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro) rs137852971 0.00001
NM_001753.5(CAV1):c.112G>T (p.Glu38Ter) rs121434501 0.00001
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter) rs104894093 0.00001
NM_006412.4(AGPAT2):c.493-1G>C rs606231168 0.00001
BSCL2, 258-BP DEL/12-BP INS
NM_001122955.4(BSCL2):c.1015C>T (p.Arg339Ter) rs137852974
NM_001122955.4(BSCL2):c.384_385delinsGGA (p.Ser128fs) rs786205068
NM_001122955.4(BSCL2):c.493_494insAA (p.Met165fs) rs786205069
NM_001122955.4(BSCL2):c.507_508del (p.Tyr170fs) rs786205070
NM_001122955.4(BSCL2):c.509_513del (p.Tyr170fs) rs587777608
NM_001122955.4(BSCL2):c.630+1G>A rs1945400235
NM_001122955.4(BSCL2):c.828del (p.Tyr277fs) rs758843908
NM_001122955.4(BSCL2):c.863+5G>A rs786205072
NM_001122955.4(BSCL2):c.864-3C>G rs786205073
NM_001753.5(CAV1):c.237_238del (p.His79fs)
NM_006412.4(AGPAT2):c.316+1G>T
NM_006412.4(AGPAT2):c.366_588+534del
NM_006412.4(AGPAT2):c.415TTC[1] (p.Phe140del) rs387906356
NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys) rs748157664
NM_006412.4(AGPAT2):c.643A>T (p.Lys215Ter) rs121908925
NM_006412.4(AGPAT2):c.683T>C (p.Leu228Pro) rs104894100
NM_006412.4(AGPAT2):c.685G>T (p.Glu229Ter) rs1255380257

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