ClinVar Miner

List of variants reported for Heterotaxy by Pediatric Genetics Clinic, Sheba Medical Center

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_178452.6(DNAAF1):c.1698+1G>A rs139519641 0.00041
NM_012472.6(DNAAF11):c.436G>C (p.Asp146His) rs200321595 0.00011
NM_031421.5(ODAD4):c.1979del (p.Thr660fs) rs1303840855 0.00006
NM_001370.2(DNAH6):c.6181C>T (p.Arg2061Ter) rs971620614 0.00003
NM_001200049.3(CFAP46):c.1951C>T (p.Arg651Trp) rs780106047 0.00002
NM_001369.3(DNAH5):c.8029C>T (p.Arg2677Ter) rs775946081 0.00001
NM_001492.6(GDF1):c.608G>A (p.Trp203Ter) rs1359321518 0.00001
NM_145020.5(CFAP53):c.778-2A>T rs778118886 0.00001
NM_001369.3(DNAH5):c.11725C>T (p.Arg3909Ter) rs1060501464
NM_001378328.1(CELSR1):c.5497G>A (p.Val1833Met) rs201306786
NM_017950.4(CCDC40):c.2832+489_2832+491dup rs1363364769
NM_021254.4(CFAP298):c.308C>A (p.Ala103Asp) rs2146563694
NM_032930.3(CFAP300):c.693_694insGA (p.Tyr232fs) rs2135055284
NM_138295.5(PKD1L1):c.5404_5405dup (p.Asp1803fs) rs2128738625
NM_145020.5(CFAP53):c.777G>T (p.Val259=) rs557771609
NM_152654.3(DAND5):c.396_397dup (p.Tyr133fs) rs768842269
NM_181426.2(CCDC39):c.1871_1872del (p.Ile624fs) rs1560086701

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