ClinVar Miner

List of variants in gene GSR, LOC130000170 studied for anemia

Included ClinVar conditions (292):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000637.5(GSR):c.261T>C (p.Gly87=) rs2280855 0.07666
NM_000637.5(GSR):c.189C>T (p.Ala63=) rs2280854 0.03974
NM_000637.5(GSR):c.43A>G (p.Ser15Gly) rs144194626 0.01737
NM_000637.5(GSR):c.41C>A (p.Pro14Gln) rs192256606 0.00981
NM_000637.5(GSR):c.242G>A (p.Arg81His) rs767823911 0.00003
NM_000637.5(GSR):c.13C>T (p.Pro5Ser)
NM_000637.5(GSR):c.172G>T (p.Ala58Ser)
NM_000637.5(GSR):c.227_253dup (p.Ala84_Glu85insGlyLeuAlaSerAlaArgArgAlaAla)
NM_000637.5(GSR):c.94G>T (p.Glu32Ter)

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