ClinVar Miner

List of variants reported as uncertain significance for Roberts-SC phocomelia syndrome; Juberg-Hayward syndrome

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_001017420.3(ESCO2):c.1105A>G (p.Lys369Glu) rs202084183 0.00034
NM_001017420.3(ESCO2):c.50A>G (p.Asp17Gly) rs141013081 0.00027
NM_001017420.3(ESCO2):c.728A>G (p.Asp243Gly) rs143466016 0.00015
NM_001017420.3(ESCO2):c.722T>C (p.Ile241Thr) rs201194009 0.00013
NM_001017420.3(ESCO2):c.1493A>C (p.Lys498Thr) rs143530690 0.00012
NM_001017420.3(ESCO2):c.1282G>T (p.Val428Leu) rs539409463 0.00010
NM_001017420.3(ESCO2):c.569A>G (p.Asn190Ser) rs770166633 0.00009
NM_001017420.3(ESCO2):c.304A>G (p.Ile102Val) rs201354290 0.00008
NM_001017420.3(ESCO2):c.331A>G (p.Lys111Glu) rs147327594 0.00004
NM_001017420.3(ESCO2):c.1132-5T>G rs886134261 0.00001
NM_001017420.3(ESCO2):c.38C>A (p.Ser13Tyr) rs771125221 0.00001
NM_001017420.3(ESCO2):c.1014A>T (p.Arg338Ser)
NM_001017420.3(ESCO2):c.107T>G (p.Phe36Cys) rs919439458
NM_001017420.3(ESCO2):c.1128C>G (p.Ile376Met) rs140062105
NM_001017420.3(ESCO2):c.1131C>T (p.Ile377=)
NM_001017420.3(ESCO2):c.1132-10C>G
NM_001017420.3(ESCO2):c.1135G>A (p.Ala379Thr)
NM_001017420.3(ESCO2):c.1236C>G (p.His412Gln)
NM_001017420.3(ESCO2):c.1238G>A (p.Arg413Lys)
NM_001017420.3(ESCO2):c.1263+15A>C
NM_001017420.3(ESCO2):c.1263+3G>A
NM_001017420.3(ESCO2):c.1280G>A (p.Arg427His)
NM_001017420.3(ESCO2):c.1295T>G (p.Phe432Cys)
NM_001017420.3(ESCO2):c.1303G>A (p.Gly435Arg)
NM_001017420.3(ESCO2):c.1354-3T>C
NM_001017420.3(ESCO2):c.1376T>C (p.Val459Ala)
NM_001017420.3(ESCO2):c.1395C>A (p.Phe465Leu)
NM_001017420.3(ESCO2):c.1499C>T (p.Ala500Val)
NM_001017420.3(ESCO2):c.1504C>T (p.Arg502Cys)
NM_001017420.3(ESCO2):c.153A>G (p.Gln51=)
NM_001017420.3(ESCO2):c.156A>G (p.Gln52=) rs950912243
NM_001017420.3(ESCO2):c.1579G>A (p.Val527Ile)
NM_001017420.3(ESCO2):c.157G>C (p.Glu53Gln)
NM_001017420.3(ESCO2):c.1621T>C (p.Phe541Leu)
NM_001017420.3(ESCO2):c.1625G>A (p.Arg542Lys)
NM_001017420.3(ESCO2):c.1642C>T (p.Arg548Cys)
NM_001017420.3(ESCO2):c.1643G>A (p.Arg548His) rs756989789
NM_001017420.3(ESCO2):c.1739A>T (p.Asp580Val)
NM_001017420.3(ESCO2):c.233A>G (p.Lys78Arg) rs2486626770
NM_001017420.3(ESCO2):c.254C>T (p.Ser85Phe)
NM_001017420.3(ESCO2):c.263A>G (p.Asn88Ser)
NM_001017420.3(ESCO2):c.306A>G (p.Ile102Met)
NM_001017420.3(ESCO2):c.319T>C (p.Ser107Pro)
NM_001017420.3(ESCO2):c.335C>G (p.Thr112Ser)
NM_001017420.3(ESCO2):c.338A>T (p.Asn113Ile)
NM_001017420.3(ESCO2):c.34G>A (p.Asp12Asn)
NM_001017420.3(ESCO2):c.34G>T (p.Asp12Tyr)
NM_001017420.3(ESCO2):c.402GAA[1] (p.Lys135del)
NM_001017420.3(ESCO2):c.434C>T (p.Thr145Ile)
NM_001017420.3(ESCO2):c.469C>G (p.Pro157Ala)
NM_001017420.3(ESCO2):c.506G>T (p.Arg169Leu)
NM_001017420.3(ESCO2):c.539A>G (p.Asn180Ser)
NM_001017420.3(ESCO2):c.560A>G (p.Asn187Ser)
NM_001017420.3(ESCO2):c.61C>T (p.His21Tyr)
NM_001017420.3(ESCO2):c.694C>A (p.Arg232Ser) rs773712638
NM_001017420.3(ESCO2):c.695G>A (p.Arg232His)
NM_001017420.3(ESCO2):c.718G>C (p.Val240Leu)
NM_001017420.3(ESCO2):c.767C>G (p.Ala256Gly)
NM_001017420.3(ESCO2):c.835A>G (p.Ser279Gly) rs886062859
NM_001017420.3(ESCO2):c.850A>G (p.Lys284Glu)
NM_001017420.3(ESCO2):c.896A>G (p.His299Arg)
NM_001017420.3(ESCO2):c.931G>A (p.Asp311Asn)
NM_001017420.3(ESCO2):c.940G>A (p.Gly314Ser)
NM_001017420.3(ESCO2):c.955+15G>C rs369338792

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