ClinVar Miner

List of variants in gene SLC52A3 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_033409.4(SLC52A3):c.1233T>C (p.Ser411=) rs910857 0.68551
NM_033409.4(SLC52A3):c.765C>T (p.Leu255=) rs3746805 0.37656
NM_033409.4(SLC52A3):c.321C>T (p.Ala107=) rs3746808 0.26517
NM_033409.4(SLC52A3):c.800C>T (p.Pro267Leu) rs3746804 0.18642
NM_033409.4(SLC52A3):c.456C>T (p.Pro152=) rs3746807 0.10172
NM_033409.4(SLC52A3):c.907A>G (p.Ile303Val) rs3746802 0.09243
NM_033409.4(SLC52A3):c.222C>G (p.Ile74Met) rs35655964 0.06422
NM_033409.4(SLC52A3):c.645C>T (p.Pro215=) rs6054605 0.06184
NM_033409.4(SLC52A3):c.1073+21A>T rs73576869 0.01611
NM_033409.4(SLC52A3):c.240C>T (p.Gly80=) rs34376836 0.01265
NM_033409.4(SLC52A3):c.600C>T (p.Pro200=) rs16992990 0.00815
NM_033409.4(SLC52A3):c.9C>T (p.Phe3=) rs139486822 0.00809
NM_033409.4(SLC52A3):c.981G>C (p.Leu327=) rs62641669 0.00081
NM_033409.4(SLC52A3):c.936G>A (p.Ala312=) rs6054602 0.00077
NM_033409.4(SLC52A3):c.339C>T (p.Phe113=) rs151229044 0.00072
NM_033409.4(SLC52A3):c.546G>A (p.Thr182=) rs139965967 0.00068
NM_033409.4(SLC52A3):c.1288T>C (p.Leu430=) rs149534355 0.00015
NM_033409.4(SLC52A3):c.97G>C (p.Glu33Gln) rs199861879 0.00011
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) rs199588390 0.00006
NM_033409.4(SLC52A3):c.1192C>T (p.Leu398Phe) rs774461829 0.00002
NM_033409.4(SLC52A3):c.241G>A (p.Val81Met) rs546240059 0.00001
NM_033409.4(SLC52A3):c.*16del rs3215628
NM_033409.4(SLC52A3):c.-10A>C
NM_033409.4(SLC52A3):c.-14_-6del rs11467076
NM_033409.4(SLC52A3):c.-6A>C
NM_033409.4(SLC52A3):c.1121G>A (p.Gly374Glu)
NM_033409.4(SLC52A3):c.446G>A (p.Gly149Asp) rs749668781
NM_033409.4(SLC52A3):c.568-16_568-15insCTGATTGAC rs3833341
NM_033409.4(SLC52A3):c.802C>A (p.Arg268=) rs145498634
NM_033409.4(SLC52A3):c.833C>T (p.Thr278Met) rs3746803

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