List of variants studied for Birk-Barel syndrome

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NR_104210.2(KCNK9):n.1375dup	rs79186831	0.99998
NM_001282534.2(KCNK9):c.223G>A (p.Gly75Ser)	rs1563758595
NM_001282534.2(KCNK9):c.25C>G (p.Leu9Val)	rs1166889219
NM_001282534.2(KCNK9):c.373T>C (p.Phe125Leu)
NM_001282534.2(KCNK9):c.391C>T (p.Arg131Cys)	rs1814690517
NM_001282534.2(KCNK9):c.392G>A (p.Arg131His)	rs867543866
NM_001282534.2(KCNK9):c.467T>C (p.Met156Thr)	rs1814686433
NM_001282534.2(KCNK9):c.599T>C (p.Ile200Thr)	rs1814681920
NM_001282534.2(KCNK9):c.706G>A (p.Gly236Arg)	rs121908332
NM_001282534.2(KCNK9):c.706G>C (p.Gly236Arg)	rs121908332
NM_001282534.2(KCNK9):c.710C>A (p.Ala237Asp)	rs1814677892
NM_001282534.2(KCNK9):c.932C>A (p.Ser311Ter)	rs767838359
NM_001282534.2(KCNK9):c.973C>A (p.His325Asn)
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)	rs1564493599

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