ClinVar Miner

List of variants studied for Skraban-Deardorff syndrome

Included ClinVar conditions (1):
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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001379403.1(WDR26):c.722+18C>G rs2405033 0.99973
NM_001379403.1(WDR26):c.1945-30T>G rs7522956 0.28993
NM_001379403.1(WDR26):c.1635T>C (p.His545=) rs140546120 0.00235
NM_001379403.1(WDR26):c.1916G>A (p.Arg639Gln) rs760399308 0.00001
GRCh38/hg38 1q42.11-42.12(chr1:224304638-224434886)x1
NM_001379403.1(WDR26):c.1006C>G (p.Leu336Val) rs2102919542
NM_001379403.1(WDR26):c.1036A>C (p.Asn346His) rs1674157739
NM_001379403.1(WDR26):c.1039dup (p.Thr347fs)
NM_001379403.1(WDR26):c.1045C>T (p.Arg349Cys) rs1674157422
NM_001379403.1(WDR26):c.1062T>G (p.Ser354Arg) rs150512167
NM_001379403.1(WDR26):c.1082A>G (p.His361Arg)
NM_001379403.1(WDR26):c.1136G>A (p.Arg379Gln) rs774272467
NM_001379403.1(WDR26):c.1150G>A (p.Asp384Asn) rs1553359384
NM_001379403.1(WDR26):c.1198C>T (p.Arg400Cys) rs2102912929
NM_001379403.1(WDR26):c.1204_1205del (p.Gln402fs) rs1553359034
NM_001379403.1(WDR26):c.1317T>G (p.Ser439Arg) rs1673963487
NM_001379403.1(WDR26):c.1319+1G>A rs1673963444
NM_001379403.1(WDR26):c.1355C>T (p.Thr452Met) rs532004418
NM_001379403.1(WDR26):c.1376G>A (p.Trp459Ter)
NM_001379403.1(WDR26):c.1411G>C (p.Ala471Pro) rs2102905325
NM_001379403.1(WDR26):c.1446G>A (p.Trp482Ter)
NM_001379403.1(WDR26):c.1458+1G>A rs1673733539
NM_001379403.1(WDR26):c.1461_1462del (p.His489fs) rs1553354980
NM_001379403.1(WDR26):c.1468C>G (p.Leu490Val) rs374760855
NM_001379403.1(WDR26):c.1498del (p.His500fs) rs2102897826
NM_001379403.1(WDR26):c.1510G>A (p.Val504Ile)
NM_001379403.1(WDR26):c.1525T>G (p.Trp509Gly) rs1553354956
NM_001379403.1(WDR26):c.1537G>A (p.Asp513Asn) rs1553354952
NM_001379403.1(WDR26):c.1556G>A (p.Cys519Tyr) rs2102897778
NM_001379403.1(WDR26):c.1576G>T (p.Glu526Ter) rs1553354926
NM_001379403.1(WDR26):c.1694G>T (p.Gly565Val) rs1572168244
NM_001379403.1(WDR26):c.1702G>A (p.Gly568Arg)
NM_001379403.1(WDR26):c.1757del (p.Val586fs) rs1553353378
NM_001379403.1(WDR26):c.1822C>T (p.Arg608Ter) rs2102891563
NM_001379403.1(WDR26):c.1829G>A (p.Arg610Gln) rs1673333616
NM_001379403.1(WDR26):c.1881dup (p.Pro628fs)
NM_001379403.1(WDR26):c.1974_1975del (p.Arg658fs) rs1572163072
NM_001379403.1(WDR26):c.2204A>G (p.Asp735Gly) rs1673189476
NM_001379403.1(WDR26):c.318AGG[5] (p.Gly125del)
NM_001379403.1(WDR26):c.365del (p.Gly122fs) rs2102930721
NM_001379403.1(WDR26):c.390_412del (p.Leu132fs) rs2102930594
NM_001379403.1(WDR26):c.454del (p.Asp152fs) rs1572227260
NM_001379403.1(WDR26):c.460G>C (p.Ala154Pro)
NM_001379403.1(WDR26):c.492dup (p.Ser165fs) rs2102930403
NM_001379403.1(WDR26):c.647_655del (p.Lys216_Lys218del)
NM_001379403.1(WDR26):c.773_776del (p.Pro258fs) rs2102926443
NM_001379403.1(WDR26):c.823-10A>G rs1674395504
NM_001379403.1(WDR26):c.834_838del (p.Asp278fs)

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