ClinVar Miner

List of variants in gene DONSON reported as uncertain significance for Inborn genetic diseases

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_017613.4(DONSON):c.836C>T (p.Pro279Leu) rs147115711 0.00064
NM_017613.4(DONSON):c.547G>T (p.Ala183Ser) rs147415181 0.00034
NM_017613.4(DONSON):c.1340A>G (p.Gln447Arg) rs138335198 0.00018
NM_017613.4(DONSON):c.1154G>A (p.Arg385His) rs750390868 0.00007
NM_017613.4(DONSON):c.717A>C (p.Arg239Ser) rs201817852 0.00007
NM_017613.4(DONSON):c.1670T>G (p.Leu557Arg) rs749937330 0.00005
NM_017613.4(DONSON):c.418T>C (p.Phe140Leu) rs371685464 0.00004
NM_017613.4(DONSON):c.1286C>A (p.Ala429Glu) rs149183836 0.00003
NM_017613.4(DONSON):c.659A>G (p.Tyr220Cys) rs369292224 0.00003
NM_017613.4(DONSON):c.751G>A (p.Asp251Asn) rs755151062 0.00003
NM_017613.4(DONSON):c.7C>T (p.Leu3Phe) rs968089348 0.00003
NM_017613.4(DONSON):c.85C>T (p.Arg29Cys) rs1011061844 0.00003
NM_017613.4(DONSON):c.1144A>G (p.Ile382Val) rs549882500 0.00002
NM_017613.4(DONSON):c.1658G>A (p.Arg553Gln) rs748637250 0.00002
NM_017613.4(DONSON):c.320C>G (p.Pro107Arg) rs868557164 0.00002
NM_017613.4(DONSON):c.1228A>G (p.Thr410Ala) rs774773262 0.00001
NM_017613.4(DONSON):c.1456A>G (p.Met486Val) rs780104963 0.00001
NM_017613.4(DONSON):c.485G>A (p.Arg162Gln) rs1157457025 0.00001
NM_017613.4(DONSON):c.847G>A (p.Val283Ile) rs981813053 0.00001
NM_017613.4(DONSON):c.938G>A (p.Gly313Asp) rs1388480712 0.00001
NM_017613.4(DONSON):c.1018G>A (p.Ala340Thr)
NM_017613.4(DONSON):c.101C>T (p.Ser34Phe) rs2086609499
NM_017613.4(DONSON):c.104C>G (p.Pro35Arg) rs1330298466
NM_017613.4(DONSON):c.1102A>C (p.Met368Leu)
NM_017613.4(DONSON):c.1201G>A (p.Val401Met)
NM_017613.4(DONSON):c.1310C>A (p.Ser437Tyr)
NM_017613.4(DONSON):c.1564G>A (p.Glu522Lys)
NM_017613.4(DONSON):c.236C>T (p.Pro79Leu)
NM_017613.4(DONSON):c.293C>T (p.Ala98Val)
NM_017613.4(DONSON):c.404C>G (p.Thr135Ser) rs2517480036
NM_017613.4(DONSON):c.44C>T (p.Pro15Leu)
NM_017613.4(DONSON):c.481A>C (p.Thr161Pro) rs2517479875
NM_017613.4(DONSON):c.481A>T (p.Thr161Ser) rs2517479875
NM_017613.4(DONSON):c.49G>A (p.Glu17Lys)
NM_017613.4(DONSON):c.52G>A (p.Val18Ile)
NM_017613.4(DONSON):c.569G>A (p.Cys190Tyr)
NM_017613.4(DONSON):c.664C>G (p.Leu222Val) rs376799218
NM_017613.4(DONSON):c.701G>A (p.Arg234His) rs1435700392
NM_017613.4(DONSON):c.89G>T (p.Gly30Val)
NM_017613.4(DONSON):c.956G>C (p.Arg319Thr) rs2086541100
NM_017613.4(DONSON):c.95C>G (p.Ala32Gly) rs1031175520

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