ClinVar Miner

List of variants in gene ERLIN2 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_007175.8(ERLIN2):c.696G>A (p.Lys232=) rs138164407 0.00311
NM_007175.8(ERLIN2):c.384C>T (p.Cys128=) rs200292614 0.00008
NM_007175.8(ERLIN2):c.144T>C (p.Gly48=) rs769021055 0.00001
NM_007175.8(ERLIN2):c.395C>T (p.Thr132Met) rs772986050 0.00001
NM_007175.8(ERLIN2):c.194C>T (p.Thr65Ile)
NM_007175.8(ERLIN2):c.237-1G>A rs1057519172
NM_007175.8(ERLIN2):c.346A>T (p.Ile116Phe)
NM_007175.8(ERLIN2):c.424+7A>G rs1802977066
NM_007175.8(ERLIN2):c.549C>T (p.Tyr183=)
NM_007175.8(ERLIN2):c.553T>C (p.Leu185=)
NM_007175.8(ERLIN2):c.740-5C>G rs191003311
NM_007175.8(ERLIN2):c.975T>C (p.Phe325=)

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