ClinVar Miner

List of variants in gene CHD2 reported as likely pathogenic for not provided

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.1591C>T (p.Gln531Ter) rs1555440558
NM_001271.4(CHD2):c.1719G>A (p.Thr573=) rs1057519228
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met) rs2053619460
NM_001271.4(CHD2):c.231_234dup (p.Leu79fs) rs2053019508
NM_001271.4(CHD2):c.2718A>C (p.Gln906His)
NM_001271.4(CHD2):c.3155G>C (p.Arg1052Thr) rs2141850628
NM_001271.4(CHD2):c.3318_3320delinsTGATGATGACAAGAAGTGTCATCTGCTTCTGAGAGTGAAACGGATC (p.Glu1106fs) rs1555443477
NM_001271.4(CHD2):c.3521G>A (p.Gly1174Asp) rs2141861645
NM_001271.4(CHD2):c.3796G>T (p.Asp1266Tyr)
NM_001271.4(CHD2):c.3853A>T (p.Lys1285Ter) rs2054201060
NM_001271.4(CHD2):c.4079del (p.Gly1360fs) rs1317103929
NM_001271.4(CHD2):c.4081del (p.Ile1361fs) rs1555444862
NM_001271.4(CHD2):c.4137+3A>T rs1064794837
NM_001271.4(CHD2):c.4528G>A (p.Gly1510Arg)
NM_001271.4(CHD2):c.4636C>T (p.Arg1546Ter) rs1064796449
NM_001271.4(CHD2):c.4893_4905del (p.His1631fs) rs1596458294
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter) rs398122998
NM_001271.4(CHD2):c.4985_4986dup (p.His1663fs) rs2054514812
NM_001271.4(CHD2):c.522del (p.Lys174_Val175insTer) rs748694853
NM_001271.4(CHD2):c.820_823del (p.Lys274fs)
NM_001271.4(CHD2):c.921C>A (p.Tyr307Ter)
NM_001271.4(CHD2):c.947dup (p.Tyr316Ter) rs1555439545

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