ClinVar Miner

List of variants in gene combination ABCA12, SNHG31 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_173076.3(ABCA12):c.7105-17C>T rs2274412 0.52421
NM_173076.3(ABCA12):c.6306C>T (p.Tyr2102=) rs10498027 0.40571
NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn) rs726070 0.02279
NM_173076.3(ABCA12):c.5925C>T (p.Asp1975=) rs6740406 0.01647
NM_173076.3(ABCA12):c.6501C>T (p.Asp2167=) rs143387234 0.00655
NM_173076.3(ABCA12):c.6648G>T (p.Arg2216Ser) rs145031776 0.00597
NM_173076.3(ABCA12):c.6208G>A (p.Val2070Ile) rs145980660 0.00171
NM_173076.3(ABCA12):c.7631C>T (p.Thr2544Ile) rs146834697 0.00143
NM_173076.3(ABCA12):c.6690A>G (p.Thr2230=) rs111355716 0.00106
NM_173076.3(ABCA12):c.6919A>G (p.Ile2307Val) rs150196545 0.00105
NM_173076.3(ABCA12):c.6704A>C (p.Glu2235Ala) rs138504099 0.00043
NM_173076.3(ABCA12):c.6564A>C (p.Ala2188=) rs750409003 0.00005
NM_173076.3(ABCA12):c.6118-6C>T rs181559226 0.00003
NM_173076.3(ABCA12):c.6934G>C (p.Gly2312Arg) rs2469139570
NM_173076.3(ABCA12):c.7134C>T (p.His2378=) rs760482242
NM_173076.3(ABCA12):c.7333A>G (p.Thr2445Ala) rs2469125660
NM_173076.3(ABCA12):c.7404A>G (p.Gln2468=) rs2469118826

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