ClinVar Miner

List of variants studied for ALG1-congenital disorder of glycosylation by 3billion

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_019109.5(ALG1):c.560G>A (p.Arg187His) rs377600706 0.00003
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp) rs151173406 0.00003
NM_019109.5(ALG1):c.1079C>T (p.Ala360Val) rs398124348 0.00001
NM_019109.5(ALG1):c.1097T>A (p.Leu366Gln) rs1596261208
NM_019109.5(ALG1):c.208+25G>T rs1281948334
NM_019109.5(ALG1):c.901+6T>C
NM_019109.5(ALG1):c.961+1G>T

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