ClinVar Miner

List of variants studied for Polyglandular autoimmune syndrome, type 1 by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000383.4(AIRE):c.927C>G (p.Ile309Met)	rs74162062	0.00010
NM_000383.4(AIRE):c.1637G>C (p.Ter546Ser)	rs1568932096

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