ClinVar Miner

List of variants in gene CHD7 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.6184C>T (p.Arg2062Trp) rs886063038 0.00002
GRCh37/hg19 8q12.2(chr8:61750227-61750394)x3
NM_017780.4(CHD7):c.1061del (p.Pro354fs) rs1554581501
NM_017780.4(CHD7):c.2377-2A>G
NM_017780.4(CHD7):c.3059T>C (p.Leu1020Ser) rs1057521077
NM_017780.4(CHD7):c.3226A>G (p.Lys1076Glu) rs1804153455
NM_017780.4(CHD7):c.3226_3227del (p.Lys1076fs) rs1064796926
NM_017780.4(CHD7):c.3232C>T (p.His1078Tyr) rs1064795519
NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg) rs1586393556
NM_017780.4(CHD7):c.3322C>T (p.His1108Tyr) rs1064796196
NM_017780.4(CHD7):c.3378+5G>A
NM_017780.4(CHD7):c.3378+5G>T rs1554598029
NM_017780.4(CHD7):c.3383del (p.His1128fs) rs2150761067
NM_017780.4(CHD7):c.343del (p.His115fs) rs2150577964
NM_017780.4(CHD7):c.3522+1del rs1064796255
NM_017780.4(CHD7):c.3623T>A (p.Val1208Asp) rs886040988
NM_017780.4(CHD7):c.3761A>C (p.His1254Pro) rs2150765100
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro) rs864309609
NM_017780.4(CHD7):c.4088T>A (p.Leu1363His) rs1064796242
NM_017780.4(CHD7):c.4247C>G (p.Thr1416Arg) rs770166812
NM_017780.4(CHD7):c.4353+3A>G rs587783441
NM_017780.4(CHD7):c.4406A>G (p.Tyr1469Cys) rs2150779357
NM_017780.4(CHD7):c.4533G>A (p.Lys1511=) rs1064793084
NM_017780.4(CHD7):c.4787A>G (p.Asp1596Gly) rs1057521078
NM_017780.4(CHD7):c.5210+5G>C
NM_017780.4(CHD7):c.5273A>G (p.Asp1758Gly)
NM_017780.4(CHD7):c.535dup (p.Ala179fs) rs2150578588
NM_017780.4(CHD7):c.5436C>A (p.Asp1812Glu) rs1586440484
NM_017780.4(CHD7):c.5902AGA[1] (p.Arg1969del)
NM_017780.4(CHD7):c.6193C>T (p.Arg2065Cys) rs1064794250
NM_017780.4(CHD7):c.6239T>C (p.Leu2080Pro) rs1064796615
NM_017780.4(CHD7):c.6756del (p.Glu2253fs) rs1805571443
NM_017780.4(CHD7):c.6854dup (p.Asp2285fs) rs1586449004
NM_017780.4(CHD7):c.7164+1G>A rs2129644267
NM_017780.4(CHD7):c.7456C>T (p.Gln2486Ter) rs1805733963
NM_017780.4(CHD7):c.7782G>A (p.Trp2594Ter) rs769587871
NM_017780.4(CHD7):c.7814_7815del (p.Met2605fs) rs1805949598
NM_017780.4(CHD7):c.8063_8064del (p.Ile2688fs) rs1554606367
NM_017780.4(CHD7):c.830dup (p.Asn278fs) rs1809075967
NM_017780.4(CHD7):c.8580_8581insT (p.Thr2861fs)
Single allele rs1554581005

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