ClinVar Miner

List of variants reported as benign for Sitosterolemia 1

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_022437.3(ABCG8):c.1411+90del rs10709506 0.88215
NM_022437.3(ABCG8):c.1412-8C>T rs28517482 0.65816
NM_022437.3(ABCG8):c.561+43T>C rs4148214 0.60441
NM_022436.3(ABCG5):c.*380T>G rs2278356 0.42073
NM_022437.3(ABCG8):c.64-7C>T rs4148210 0.41875
NM_022437.3(ABCG8):c.-19T>G rs3806471 0.36621
NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys) rs4148211 0.34608
NM_022437.3(ABCG8):c.64-21C>A rs4148209 0.34551
NM_022436.3(ABCG5):c.*622C>T rs4148195 0.24225
NM_022436.3(ABCG5):c.*416G>A rs2278357 0.21979
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu) rs6720173 0.21159
NM_022436.3(ABCG5):c.*522G>A rs77105521 0.18100
NM_022437.3(ABCG8):c.1695C>T (p.Ala565=) rs4148221 0.16563
NM_022436.3(ABCG5):c.148C>T (p.Arg50Cys) rs6756629 0.06901
NM_022437.3(ABCG8):c.453G>A (p.Val151=) rs56132765 0.06877
NM_022437.3(ABCG8):c.55G>C (p.Asp19His) rs11887534 0.06566
NM_022437.3(ABCG8):c.675G>A (p.Val225=) rs9282575 0.04664
NM_022437.3(ABCG8):c.-15A>C rs72647315 0.03755
NM_022437.3(ABCG8):c.239G>A (p.Cys80Tyr) rs80025980 0.02513
NM_022436.3(ABCG5):c.*399C>T rs79475203 0.01918
NM_022436.3(ABCG5):c.785A>G (p.Lys262Arg) rs78070897 0.01647
NM_022437.3(ABCG8):c.165+13C>T rs75365565 0.01403
NM_022437.3(ABCG8):c.628G>A (p.Val210Met) rs9282574 0.01336
NM_022436.3(ABCG5):c.1550C>G (p.Thr517Ser) rs17031672 0.01119
NM_022437.3(ABCG8):c.94A>G (p.Ser32Gly) rs148370122 0.00892
NM_022436.3(ABCG5):c.775-10G>T rs114549158 0.00688
NM_022437.3(ABCG8):c.1365C>T (p.Ile455=) rs115227860 0.00675
NM_022436.3(ABCG5):c.*535C>T rs77638440 0.00642
NM_022437.3(ABCG8):c.154C>G (p.Leu52Val) rs142250628 0.00624
NM_022436.3(ABCG5):c.-118A>C rs55853083
NM_022436.3(ABCG5):c.139G>T (p.Val47Phe) rs72542426
NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys) rs4148217
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val) rs147194762
NM_022437.3(ABCG8):c.1412-116T>G rs4952689
NM_022437.3(ABCG8):c.1756+15C>T rs78577353
NM_022437.3(ABCG8):c.1895T>C (p.Val632Ala) rs6544718

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