ClinVar Miner

List of variants in gene DNAI1 reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_012144.4(DNAI1):c.370C>T (p.Arg124Cys) rs116938457 0.00053
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_012144.4(DNAI1):c.180G>A (p.Ala60=) rs201120508 0.00020
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter) rs200669099 0.00006
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp) rs376252276 0.00005
NM_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter) rs926347298 0.00004
NM_012144.4(DNAI1):c.1222G>A (p.Val408Met) rs794727103 0.00003
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser) rs79833450 0.00003
NM_012144.4(DNAI1):c.1703G>C (p.Trp568Ser) rs772686744 0.00003
NM_012144.4(DNAI1):c.912C>G (p.Tyr304Ter) rs878854968 0.00003
NM_012144.4(DNAI1):c.1019+5G>C rs747121305 0.00001
NM_012144.4(DNAI1):c.1352T>A (p.Phe451Tyr) rs148810969 0.00001
NM_012144.4(DNAI1):c.1530del (p.Asp509_Tyr510insTer) rs751920647 0.00001
NM_012144.4(DNAI1):c.1569+1G>T rs1465404366 0.00001
NM_012144.4(DNAI1):c.465_466del (p.Glu156fs) rs1392661120 0.00001
NM_012144.4(DNAI1):c.530T>A (p.Leu177Ter) rs749302505 0.00001
NM_012144.4(DNAI1):c.598C>T (p.Gln200Ter) rs763505357 0.00001
NM_012144.4(DNAI1):c.859G>T (p.Glu287Ter) rs1290572246 0.00001
NC_000009.11:g.(?_34483426)_(34520754_?)del
NC_000009.11:g.(?_34489301)_(34491572_?)del
NC_000009.11:g.(?_34489311)_(34489457_?)del
NC_000009.11:g.(?_34513100)_(34514747_?)del
NM_012144.4(DNAI1):c.-1_4del (p.Met1fs)
NM_012144.4(DNAI1):c.1019G>A (p.Trp340Ter)
NM_012144.4(DNAI1):c.1063+1G>A rs1268770869
NM_012144.4(DNAI1):c.1063+1G>T rs1268770869
NM_012144.4(DNAI1):c.1063+2T>C
NM_012144.4(DNAI1):c.1073_1076del (p.Met358fs)
NM_012144.4(DNAI1):c.1092dup (p.Leu365fs)
NM_012144.4(DNAI1):c.1127del (p.Pro376fs) rs2132076740
NM_012144.4(DNAI1):c.1134C>G (p.Tyr378Ter)
NM_012144.4(DNAI1):c.1188del (p.Tyr397fs) rs1060503515
NM_012144.4(DNAI1):c.1191_1193del (p.Tyr397_Leu398delinsTer) rs2132076876
NM_012144.4(DNAI1):c.1202dup (p.Gly402fs) rs2132076893
NM_012144.4(DNAI1):c.1239del (p.Lys414fs)
NM_012144.4(DNAI1):c.1289_1310dup (p.Val438fs)
NM_012144.4(DNAI1):c.1307G>A (p.Trp436Ter) rs769284314
NM_012144.4(DNAI1):c.1319G>A (p.Trp440Ter)
NM_012144.4(DNAI1):c.1348_1352del (p.Asn450fs) rs867262419
NM_012144.4(DNAI1):c.1358_1359del (p.Ser453fs) rs2132081341
NM_012144.4(DNAI1):c.1383_1384del (p.Ser462fs) rs1370523337
NM_012144.4(DNAI1):c.139del (p.Ala47fs)
NM_012144.4(DNAI1):c.1463del (p.Pro488fs) rs2132081705
NM_012144.4(DNAI1):c.146_149del (p.Val49fs) rs2132057373
NM_012144.4(DNAI1):c.1490G>T (p.Gly497Val) rs376252276
NM_012144.4(DNAI1):c.1498_1502del (p.Thr500fs)
NM_012144.4(DNAI1):c.1499dup (p.Ala501fs) rs1825102855
NM_012144.4(DNAI1):c.1569+1G>A rs1465404366
NM_012144.4(DNAI1):c.156del (p.Asp53fs) rs1060503495
NM_012144.4(DNAI1):c.1591C>T (p.Gln531Ter)
NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr) rs368248592
NM_012144.4(DNAI1):c.1638_1639del (p.Ser547fs)
NM_012144.4(DNAI1):c.163del (p.Leu55fs) rs1196979432
NM_012144.4(DNAI1):c.1643G>A (p.Trp548Ter)
NM_012144.4(DNAI1):c.1644del (p.Ser547_Trp548insTer)
NM_012144.4(DNAI1):c.1653C>G (p.Tyr551Ter)
NM_012144.4(DNAI1):c.1676G>A (p.Cys559Tyr) rs1335386227
NM_012144.4(DNAI1):c.1677C>A (p.Cys559Ter)
NM_012144.4(DNAI1):c.1684G>A (p.Asp562Asn)
NM_012144.4(DNAI1):c.1720_1725delinsTGATAGGAATAAGGGCTAAATGCAGGAAAGGGGATGGAGAATCTAGAGGGTGACTTTAGCCCAGCTCAGCATCTTTTCCTCCGGGCCCTCCCTCCCTTCCTGGGAGTTGAGGTAGAAGGGGGGATTCGGAGGAGTTAGAATATTTTGGGAAAACTTCCTGGAGGAGATTTGTACTTGAGCTGAGCTTGGAAGGCCAGAATTATCTCTGAATACTGGGTACATCCCAGCCAGCAGGATGGAACCTCACGGTCAGTTTCTACACA (p.Thr574_Pro575delinsTer)
NM_012144.4(DNAI1):c.178dup (p.Ala60fs) rs2132057423
NM_012144.4(DNAI1):c.1871del (p.Pro624fs) rs1168493593
NM_012144.4(DNAI1):c.1887del (p.Asn630fs) rs2132086495
NM_012144.4(DNAI1):c.1900dup (p.His634fs) rs1825189052
NM_012144.4(DNAI1):c.193G>T (p.Glu65Ter)
NM_012144.4(DNAI1):c.1941_1942insCA (p.Asp648fs)
NM_012144.4(DNAI1):c.1A>G (p.Met1Val)
NM_012144.4(DNAI1):c.2001+1G>T
NM_012144.4(DNAI1):c.264del (p.Gly89fs) rs2132060982
NM_012144.4(DNAI1):c.272dup (p.Tyr91Ter)
NM_012144.4(DNAI1):c.336del (p.Asp114fs) rs876657683
NM_012144.4(DNAI1):c.380T>A (p.Leu127Ter)
NM_012144.4(DNAI1):c.397G>T (p.Glu133Ter)
NM_012144.4(DNAI1):c.402_403insAT (p.Val135fs)
NM_012144.4(DNAI1):c.43A>T (p.Lys15Ter)
NM_012144.4(DNAI1):c.458T>A (p.Leu153Ter) rs2132061817
NM_012144.4(DNAI1):c.484_485del (p.Asp162fs)
NM_012144.4(DNAI1):c.488_489dup (p.Pro164fs)
NM_012144.4(DNAI1):c.544C>T (p.Gln182Ter) rs1824564325
NM_012144.4(DNAI1):c.556dup (p.Arg186fs) rs1824564676
NM_012144.4(DNAI1):c.565_566del (p.Leu188_Thr189insTer) rs1405276816
NM_012144.4(DNAI1):c.622-2A>G
NM_012144.4(DNAI1):c.625C>T (p.Arg209Ter) rs769224534
NM_012144.4(DNAI1):c.634C>T (p.Gln212Ter)
NM_012144.4(DNAI1):c.663_664del (p.Ala223fs) rs2132063305
NM_012144.4(DNAI1):c.683G>A (p.Trp228Ter)
NM_012144.4(DNAI1):c.688_689del (p.Ile230fs) rs2132065290
NM_012144.4(DNAI1):c.718A>T (p.Lys240Ter)
NM_012144.4(DNAI1):c.864del (p.Met289fs)
NM_012144.4(DNAI1):c.885_886dup (p.Asp296fs)
NM_012144.4(DNAI1):c.92C>G (p.Ser31Ter)
NM_012144.4(DNAI1):c.944_947dup (p.Thr318fs)
NM_012144.4(DNAI1):c.947dup (p.Thr318fs)

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