ClinVar Miner

List of variants studied for CHARGE syndrome by 3billion

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.1061del (p.Pro354fs) rs1554581501
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter) rs587783429
NM_017780.4(CHD7):c.1603C>T (p.Gln535Ter) rs751709941
NM_017780.4(CHD7):c.1867G>T (p.Gly623Trp) rs375905260
NM_017780.4(CHD7):c.191_194del (p.Thr64fs) rs587783431
NM_017780.4(CHD7):c.201del (p.His68fs)
NM_017780.4(CHD7):c.2442+1G>A rs1085307582
NM_017780.4(CHD7):c.2498+3A>G rs2150723994
NM_017780.4(CHD7):c.2499-11T>A rs2150738863
NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs) rs886040982
NM_017780.4(CHD7):c.282del (p.Asn96fs) rs1563559321
NM_017780.4(CHD7):c.2998dup (p.Thr1000fs)
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.3310_3311del (p.Val1103_Ile1104insTer)
NM_017780.4(CHD7):c.3327G>C (p.Arg1109Ser)
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter) rs1563644066
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter) rs886040991
NM_017780.4(CHD7):c.4505del (p.Glu1501_Ser1502insTer)
NM_017780.4(CHD7):c.4783C>T (p.Gln1595Ter) rs1804995748
NM_017780.4(CHD7):c.4995G>A (p.Trp1665Ter) rs1487550618
NM_017780.4(CHD7):c.5051-1G>A rs1586432203
NM_017780.4(CHD7):c.5101C>T (p.Gln1701Ter) rs2150793975
NM_017780.4(CHD7):c.5210+1G>A rs2150794309
NM_017780.4(CHD7):c.5210+5G>C rs2487976511
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.5428C>T (p.Arg1810Ter) rs1554603552
NM_017780.4(CHD7):c.5738T>C (p.Leu1913Pro) rs2150807679
NM_017780.4(CHD7):c.5955del (p.Phe1985fs) rs2488035644
NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter) rs587783450
NM_017780.4(CHD7):c.6208dup (p.His2070fs) rs2488040230
NM_017780.4(CHD7):c.6461C>T (p.Pro2154Leu) rs1805544418
NM_017780.4(CHD7):c.6830G>A (p.Ser2277Asn) rs2488056894
NM_017780.4(CHD7):c.6850C>T (p.Arg2284Ter) rs587783454
NM_017780.4(CHD7):c.7164+1G>A rs2129644267
NM_017780.4(CHD7):c.7184C>G (p.Ser2395Cys) rs2488072248
NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter) rs587783455
NM_017780.4(CHD7):c.8077-10T>A
NM_017780.4(CHD7):c.8191G>A (p.Ala2731Thr) rs2488143378
NM_017780.4(CHD7):c.934C>T (p.Arg312Ter) rs886041166

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