ClinVar Miner

List of variants in gene ASH1L reported as pathogenic for not provided

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_018489.3(ASH1L):c.1450C>T (p.Arg484Ter)
NM_018489.3(ASH1L):c.1456G>T (p.Glu486Ter)
NM_018489.3(ASH1L):c.160C>T (p.Arg54Ter)
NM_018489.3(ASH1L):c.1632del (p.Lys544fs) rs1558151861
NM_018489.3(ASH1L):c.1880_1881dup (p.Gly628fs) rs1570941501
NM_018489.3(ASH1L):c.2113C>T (p.Gln705Ter)
NM_018489.3(ASH1L):c.2134dup (p.Arg712fs) rs1558150870
NM_018489.3(ASH1L):c.2770_2783del (p.Ser924fs) rs2148725649
NM_018489.3(ASH1L):c.2991_2992del (p.Leu998fs) rs1570938310
NM_018489.3(ASH1L):c.3664_3667del (p.Lys1222fs) rs1558148010
NM_018489.3(ASH1L):c.4024C>T (p.Arg1342Ter)
NM_018489.3(ASH1L):c.4224_4225del (p.Tyr1409fs) rs1570934766
NM_018489.3(ASH1L):c.4579C>T (p.Arg1527Ter) rs1558146278
NM_018489.3(ASH1L):c.4656_4659del (p.Glu1553fs)
NM_018489.3(ASH1L):c.4902_4903del (p.Ser1635fs) rs1665684529
NM_018489.3(ASH1L):c.5138_5139del (p.Ser1713fs)
NM_018489.3(ASH1L):c.5506C>T (p.Gln1836Ter) rs1558105796
NM_018489.3(ASH1L):c.6502G>T (p.Glu2168Ter)
NM_018489.3(ASH1L):c.6826C>T (p.Arg2276Ter) rs2148372150
NM_018489.3(ASH1L):c.7098G>A (p.Trp2366Ter)
NM_018489.3(ASH1L):c.7252C>T (p.Arg2418Ter)
NM_018489.3(ASH1L):c.7558_7559dup (p.Tyr2521fs) rs2148337014
NM_018489.3(ASH1L):c.7603C>T (p.Arg2535Ter)
NM_018489.3(ASH1L):c.790G>T (p.Gly264Ter) rs2148732461
NM_018489.3(ASH1L):c.8500C>T (p.Arg2834Ter)

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