ClinVar Miner

List of variants in gene LOC126860130, RELN, SLC26A5 studied for Norman-Roberts syndrome

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.9714C>T (p.His3238=) rs78218774 0.01139
NM_005045.4(RELN):c.9524A>C (p.His3175Pro) rs74513461 0.00648
NM_005045.4(RELN):c.9708C>T (p.Ser3236=) rs200370282 0.00008
NM_005045.4(RELN):c.9664A>G (p.Ile3222Val) rs142638365 0.00001
NM_005045.4(RELN):c.9681T>C (p.Ile3227=) rs1236487874
NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser) rs73714410

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