ClinVar Miner

List of variants reported as pathogenic for CHARGE association by OMIM

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Total variants: 15
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HGVS dbSNP
CHD7, DEL EXONS 8-12
NM_012431.3(SEMA3E):c.2108C>T (p.Ser703Leu) rs121918341
NM_017780.4(CHD7):c.2442+5G>C rs387906271
NM_017780.4(CHD7):c.2501C>T (p.Ser834Phe) rs121434344
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) rs121434338
NM_017780.4(CHD7):c.3770T>G (p.Leu1257Arg) rs121434339
NM_017780.4(CHD7):c.3811G>T (p.Glu1271Ter) rs121434342
NM_017780.4(CHD7):c.4795C>T (p.Gln1599Ter) rs267606724
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.5418C>G (p.Tyr1806Ter) rs121434340
NM_017780.4(CHD7):c.5752dup (p.Thr1918fs) rs786200873
NM_017780.4(CHD7):c.6322G>A (p.Gly2108Arg) rs121434343
NM_017780.4(CHD7):c.6955C>A (p.Arg2319Ser) rs121434341
NM_017780.4(CHD7):c.6995G>A (p.Trp2332Ter) rs794727569
NM_017780.4(CHD7):c.8682_8683insT (p.Leu2895fs) rs1563674576

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