ClinVar Miner

List of variants reported by Carola Vinuesa Lab, John Curtin School of Medical Research

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_017935.5(BANK1):c.120G>C (p.Trp40Cys) rs35978636 0.01146
NM_001715.3(BLK):c.713G>A (p.Arg238Gln) rs141865425 0.00300
NM_001715.3(BLK):c.116C>T (p.Pro39Leu) rs142352008 0.00222
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys) rs146505280 0.00059
NM_001715.3(BLK):c.252G>C (p.Lys84Asn) rs778435147 0.00004
NM_001715.3(BLK):c.344G>A (p.Arg115Gln) rs367628135 0.00004
NM_001715.3(BLK):c.164A>G (p.His55Arg) rs202053568 0.00003
NM_001715.3(BLK):c.301G>A (p.Val101Ile) rs371256341 0.00001
NM_001715.3(BLK):c.392G>A (p.Arg131Gln) rs144615291 0.00001
NM_001715.3(BLK):c.1048T>C (p.Tyr350His) rs758750492
NM_001715.3(BLK):c.391C>T (p.Arg131Trp) rs73663163
NM_001715.3(BLK):c.919C>G (p.Pro307Ala) rs1307379746
NM_001743.6(CALM2):c.340G>A (p.Gly114Arg) rs2103823712
NM_003482.4(KMT2D):c.8626del (p.Gln2876fs) rs1565789104
NM_021005.4(NR2F2):c.1022C>A (p.Ser341Tyr) rs587777371

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