ClinVar Miner

List of variants reported as pathogenic for SHORT syndrome

Included ClinVar conditions (3):
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_181523.3(PIK3R1):c.484C>T (p.Arg162Ter) rs1230037871 0.00001
NM_181523.3(PIK3R1):c.1072C>T (p.Arg358Ter)
NM_181523.3(PIK3R1):c.1306_1313del (p.Val436fs)
NM_181523.3(PIK3R1):c.1314_1317del (p.Glu439fs)
NM_181523.3(PIK3R1):c.1344del (p.Lys448fs) rs1289537429
NM_181523.3(PIK3R1):c.1344dup (p.Leu449fs) rs1289537429
NM_181523.3(PIK3R1):c.1350_1360del (p.Glu451fs)
NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter) rs1057519838
NM_181523.3(PIK3R1):c.1425+1G>A rs587777709
NM_181523.3(PIK3R1):c.1425+1G>C rs587777709
NM_181523.3(PIK3R1):c.1425+1G>T rs587777709
NM_181523.3(PIK3R1):c.1425+2T>A rs1554051075
NM_181523.3(PIK3R1):c.1465G>A (p.Glu489Lys) rs397514047
NM_181523.3(PIK3R1):c.1612ATT[1] (p.Ile539del) rs397514046
NM_181523.3(PIK3R1):c.1650_1674del (p.Lys551fs)
NM_181523.3(PIK3R1):c.1692C>G (p.Asn564Lys) rs773686816
NM_181523.3(PIK3R1):c.1710dup (p.Ile571fs) rs1561299903
NM_181523.3(PIK3R1):c.1906_1907insC (p.Asn636fs) rs398122385
NM_181523.3(PIK3R1):c.1943dup (p.Arg649fs) rs398122384
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453
NM_181523.3(PIK3R1):c.450C>G (p.Tyr150Ter) rs1339790364
NM_181523.3(PIK3R1):c.893G>A (p.Trp298Ter) rs397509384
NM_181523.3(PIK3R1):c.901C>T (p.Arg301Ter) rs367669362
NM_181523.3(PIK3R1):c.916+1G>A rs2112197421
NM_181523.3(PIK3R1):c.965del (p.Met322fs) rs1580260232

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