ClinVar Miner

List of variants studied for CADDS

Included ClinVar conditions (2):
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Total variants: 7
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HGVS dbSNP
GRCh37/hg19 Xq28(chrX:152980470-153032459)
NC_000023.11:g.153696346_153701690del
NM_005745.7(BCAP31):c.-44-270C>A rs1057518721
NM_005745.7(BCAP31):c.194-2A>G rs879255569
NM_005745.7(BCAP31):c.341+2T>G rs1064794057
NM_005745.7(BCAP31):c.363_364TC[1] (p.Leu122fs) rs1557047954
NM_005745.7(BCAP31):c.97C>T (p.Gln33Ter) rs397515620

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