List of variants reported as likely pathogenic for SHORT syndrome

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_181523.3(PIK3R1):c.1106C>T (p.Thr369Ile)	rs587784325
NM_181523.3(PIK3R1):c.1300-2A>G	rs1403833564
NM_181523.3(PIK3R1):c.1300-5_1320del	rs2112261986
NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter)	rs1057519838
NM_181523.3(PIK3R1):c.1425+1G>A	rs587777709
NM_181523.3(PIK3R1):c.1460T>C (p.Phe487Ser)	rs797045063
NM_181523.3(PIK3R1):c.1609_1623del (p.Glu537_Ser541del)	rs1747639986
NM_181523.3(PIK3R1):c.1946G>A (p.Arg649Gln)
NM_181523.3(PIK3R1):c.502+1G>C	rs773461483
NM_181523.3(PIK3R1):c.502+1G>T	rs773461483
NM_181523.3(PIK3R1):c.916+2T>C

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