ClinVar Miner

List of variants in gene SNX14 studied for multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Included ClinVar conditions (406):
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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_153816.6(SNX14):c.2410G>A (p.Val804Ile) rs141213887 0.00066
NM_153816.6(SNX14):c.140+9G>A rs751616334 0.00005
NM_153816.6(SNX14):c.1108G>T (p.Glu370Ter) rs201128942 0.00004
NM_153816.6(SNX14):c.2395C>T (p.Arg799Trp) rs556044910 0.00002
NM_153816.6(SNX14):c.331C>T (p.Arg111Ter) rs760752847 0.00002
NM_153816.6(SNX14):c.1132C>T (p.Arg378Ter) rs786205229 0.00001
NM_153816.6(SNX14):c.131T>C (p.Leu44Pro) rs777542453 0.00001
NM_153816.6(SNX14):c.252C>G (p.Tyr84Ter) rs1171657935 0.00001
NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer) rs774694340 0.00001
NM_153816.6(SNX14):c.2674G>A (p.Gly892Ser) rs758491411 0.00001
NC_000006.11:g.(86251762_86252899)_(86259598_86267693)dup
NM_153816.2(SNX14):c.1108+1181_2108-2342del
NM_153816.6(SNX14):c.1108G>A (p.Glu370Lys) rs201128942
NM_153816.6(SNX14):c.119C>T (p.Ala40Val) rs1803676386
NM_153816.6(SNX14):c.1300C>T (p.Gln434Ter) rs1784370895
NM_153816.6(SNX14):c.1608+1G>T rs749656742
NM_153816.6(SNX14):c.1707_1708insTTTTTTTTTTT (p.Pro570fs) rs1057519561
NM_153816.6(SNX14):c.1725del (p.Phe575fs) rs1311909367
NM_153816.6(SNX14):c.1809A>G (p.Ala603=) rs1582696313
NM_153816.6(SNX14):c.1878del (p.Lys626fs)
NM_153816.6(SNX14):c.1894+1G>T rs876657386
NM_153816.6(SNX14):c.1996-12dup
NM_153816.6(SNX14):c.2148+1G>T
NM_153816.6(SNX14):c.2447G>A (p.Arg816Gln) rs936843937
NM_153816.6(SNX14):c.2506G>T (p.Glu836Ter)
NM_153816.6(SNX14):c.2557+1G>A rs200277996
NM_153816.6(SNX14):c.2596C>T (p.Gln866Ter) rs876657385
NM_153816.6(SNX14):c.2746-2A>G
NM_153816.6(SNX14):c.2764_2770del (p.Leu921_Asp922insTer) rs1064793681
NM_153816.6(SNX14):c.295C>T (p.His99Tyr) rs1795901647
NM_153816.6(SNX14):c.303T>A (p.Cys101Ter) rs1562374476
NM_153816.6(SNX14):c.428T>A (p.Leu143Ter) rs876657387
NM_153816.6(SNX14):c.44_45del (p.Arg15fs)
NM_153816.6(SNX14):c.462-589A>G
NM_153816.6(SNX14):c.572C>A (p.Thr191Asn) rs773557814
NM_153816.6(SNX14):c.645dup (p.Glu216fs) rs869320748
NM_153816.6(SNX14):c.739C>G (p.Leu247Val)
NM_153816.6(SNX14):c.913C>A (p.Pro305Thr) rs765192341

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