ClinVar Miner

List of variants studied for CHARGE syndrome by Baylor Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_012431.3(SEMA3E):c.1637G>A (p.Arg546Gln) rs769248913 0.00004
NM_012431.3(SEMA3E):c.1172A>T (p.Tyr391Phe) rs753965043 0.00002
NM_012431.3(SEMA3E):c.1075C>G (p.His359Asp) rs1378507372 0.00001
NM_012431.3(SEMA3E):c.1905G>A (p.Met635Ile) rs1794698535
NM_017780.4(CHD7):c.1412T>C (p.Leu471Ser)
NM_017780.4(CHD7):c.1554G>T (p.Gln518His) rs369284507
NM_017780.4(CHD7):c.1848del (p.Asp618fs) rs1811207509
NM_017780.4(CHD7):c.2096G>A (p.Ser699Asn) rs1563595388
NM_017780.4(CHD7):c.2238G>C (p.Gln746His)
NM_017780.4(CHD7):c.2239-16T>A
NM_017780.4(CHD7):c.247A>G (p.Met83Val) rs1809024182
NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs) rs886040982
NM_017780.4(CHD7):c.282del (p.Asn96fs) rs1563559321
NM_017780.4(CHD7):c.3364_3365del (p.Lys1122fs)
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter) rs794727293
NM_017780.4(CHD7):c.4928G>A (p.Cys1643Tyr)
NM_017780.4(CHD7):c.4940_4944delinsA (p.Leu1647fs)
NM_017780.4(CHD7):c.511C>T (p.Gln171Ter) rs1563560018
NM_017780.4(CHD7):c.5300+1G>A
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017780.4(CHD7):c.5607+1G>A rs1554603672
NM_017780.4(CHD7):c.5948T>C (p.Val1983Ala) rs1805501302
NM_017780.4(CHD7):c.6186dup (p.Lys2063fs)
NM_017780.4(CHD7):c.6193C>T (p.Arg2065Cys) rs1064794250
NM_017780.4(CHD7):c.6936+2T>C
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys) rs121434341
NM_017780.4(CHD7):c.6962A>T (p.Asp2321Val)
NM_017780.4(CHD7):c.7256A>G (p.Asn2419Ser) rs1805721790
NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter) rs1064793346
NM_017780.4(CHD7):c.8063T>G (p.Ile2688Arg) rs755066542

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