ClinVar Miner

List of variants in gene NSMCE2 studied for Seckel syndrome 10

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Gene type: Distinguish antisense genes from sense genes
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_173685.4(NSMCE2):c.419-18C>T	rs372016316	0.00010
NM_173685.4(NSMCE2):c.346del (p.Ser116fs)	rs757613817
NM_173685.4(NSMCE2):c.577G>A (p.Ala193Thr)	rs746545242
NM_173685.4(NSMCE2):c.697_700dup (p.Ala234fs)	rs773917653

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