ClinVar Miner

List of variants reported as likely pathogenic for ciliopathy by Myriad Genetics, Inc.

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 402
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.2078G>A (p.Trp693Ter) rs1714132239 0.00001
NM_153717.3(EVC):c.2894+3A>G rs1424976594 0.00001
NM_001369.3(DNAH5):c.10030del (p.Ser3344fs)
NM_001369.3(DNAH5):c.10065del (p.Lys3355fs)
NM_001369.3(DNAH5):c.10201G>T (p.Gly3401Ter)
NM_001369.3(DNAH5):c.10289T>A (p.Leu3430Ter)
NM_001369.3(DNAH5):c.10304_10306delinsTTCG (p.Asn3435fs)
NM_001369.3(DNAH5):c.10764_10765delinsA (p.Gln3589fs)
NM_001369.3(DNAH5):c.10771G>T (p.Gly3591Ter)
NM_001369.3(DNAH5):c.10783_10784del (p.Thr3595fs)
NM_001369.3(DNAH5):c.10933del (p.Arg3645fs)
NM_001369.3(DNAH5):c.11203G>T (p.Glu3735Ter)
NM_001369.3(DNAH5):c.11205delinsTGTGTATAAGAGACAGT (p.Glu3735fs)
NM_001369.3(DNAH5):c.11207_11208insT (p.Lys3736fs)
NM_001369.3(DNAH5):c.11344_11345insGCAGCAC (p.Ile3782fs)
NM_001369.3(DNAH5):c.11380G>T (p.Glu3794Ter)
NM_001369.3(DNAH5):c.11469del (p.Ser3824fs)
NM_001369.3(DNAH5):c.11496_11497del (p.Glu3832fs)
NM_001369.3(DNAH5):c.1152_1153del (p.His385fs)
NM_001369.3(DNAH5):c.11668G>T (p.Glu3890Ter)
NM_001369.3(DNAH5):c.11705del (p.Lys3902fs)
NM_001369.3(DNAH5):c.11766_11768delinsCTCTGGTTGGTGAG (p.Ala3923delinsSerGlyTrpTer)
NM_001369.3(DNAH5):c.11783_11784del (p.Lys3928fs)
NM_001369.3(DNAH5):c.11857A>T (p.Arg3953Ter)
NM_001369.3(DNAH5):c.1186_1190delinsA (p.Leu396fs)
NM_001369.3(DNAH5):c.11935dup (p.Glu3979fs) rs2126564662
NM_001369.3(DNAH5):c.11938G>T (p.Glu3980Ter)
NM_001369.3(DNAH5):c.12069del (p.Lys4023fs)
NM_001369.3(DNAH5):c.12073_12074insATAGAGAAGAGGT (p.Ala4025fs)
NM_001369.3(DNAH5):c.12074_12075insTGTCTCTTATACACAG (p.Glu4026fs)
NM_001369.3(DNAH5):c.12298C>T (p.Gln4100Ter)
NM_001369.3(DNAH5):c.12377dup (p.Arg4127fs)
NM_001369.3(DNAH5):c.12459_12460insTGTTTTTTTT (p.Pro4154fs)
NM_001369.3(DNAH5):c.12478G>T (p.Gly4160Ter)
NM_001369.3(DNAH5):c.12650_12653delinsATAAGAGACAGT (p.Phe4217fs)
NM_001369.3(DNAH5):c.12816_12817del (p.Phe4272fs)
NM_001369.3(DNAH5):c.12899delinsTT (p.Gln4300fs)
NM_001369.3(DNAH5):c.1291A>T (p.Lys431Ter)
NM_001369.3(DNAH5):c.1303_1304insAGTGT (p.Ala435fs)
NM_001369.3(DNAH5):c.13040del (p.Gly4347fs)
NM_001369.3(DNAH5):c.13119dup (p.Phe4374fs)
NM_001369.3(DNAH5):c.13255_13256del (p.Asp4419fs)
NM_001369.3(DNAH5):c.13364del (p.Gly4455fs)
NM_001369.3(DNAH5):c.1384_1399delinsATTGTT (p.Phe462fs)
NM_001369.3(DNAH5):c.1411G>T (p.Gly471Ter)
NM_001369.3(DNAH5):c.141T>A (p.Cys47Ter)
NM_001369.3(DNAH5):c.149del (p.Leu50fs)
NM_001369.3(DNAH5):c.1530del (p.Lys510fs)
NM_001369.3(DNAH5):c.1576_1577del (p.Leu526fs)
NM_001369.3(DNAH5):c.1693_1694insGCAGG (p.Thr565fs)
NM_001369.3(DNAH5):c.1750_1751insTGTATAAGAGACA (p.Gly584fs)
NM_001369.3(DNAH5):c.1789_1790insACACTCAGCAGCA (p.Gly597fs)
NM_001369.3(DNAH5):c.2087T>A (p.Leu696Ter)
NM_001369.3(DNAH5):c.2188G>T (p.Glu730Ter)
NM_001369.3(DNAH5):c.2278C>T (p.Gln760Ter)
NM_001369.3(DNAH5):c.2382G>A (p.Trp794Ter)
NM_001369.3(DNAH5):c.2398_2408del (p.Glu800fs)
NM_001369.3(DNAH5):c.2449_2452del (p.Leu817fs)
NM_001369.3(DNAH5):c.2554_2555insTATAAGAGACAGT (p.Glu852delinsValTer)
NM_001369.3(DNAH5):c.2557_2565delinsAA (p.Glu853fs)
NM_001369.3(DNAH5):c.2566_2567insTATGCCGTCTTCTGCTTGT (p.Gln856fs)
NM_001369.3(DNAH5):c.2720_2721del (p.Val907fs)
NM_001369.3(DNAH5):c.2724_2727del (p.Asn908fs)
NM_001369.3(DNAH5):c.2766del (p.Phe922fs)
NM_001369.3(DNAH5):c.2780C>A (p.Ser927Ter)
NM_001369.3(DNAH5):c.2938dup (p.Ala980fs)
NM_001369.3(DNAH5):c.293del (p.Leu98fs)
NM_001369.3(DNAH5):c.2942delinsGCAGCA (p.Ile981fs)
NM_001369.3(DNAH5):c.2947A>T (p.Lys983Ter)
NM_001369.3(DNAH5):c.2969_2970del (p.Thr990fs)
NM_001369.3(DNAH5):c.2996_2997insAATATTT (p.Ser1000fs)
NM_001369.3(DNAH5):c.3017del (p.Ser1006fs)
NM_001369.3(DNAH5):c.3034del (p.Ala1012fs)
NM_001369.3(DNAH5):c.3051del (p.Ile1018fs)
NM_001369.3(DNAH5):c.3082G>T (p.Glu1028Ter)
NM_001369.3(DNAH5):c.3152G>A (p.Trp1051Ter)
NM_001369.3(DNAH5):c.3162_3163insACCATTT (p.Leu1055fs)
NM_001369.3(DNAH5):c.3238_3240delinsT (p.Glu1080fs)
NM_001369.3(DNAH5):c.3766_3767insAAAGT (p.Ala1256fs)
NM_001369.3(DNAH5):c.3799C>T (p.Gln1267Ter)
NM_001369.3(DNAH5):c.3849_3850insGTCGCCGTATCATT (p.Leu1284fs)
NM_001369.3(DNAH5):c.3880G>T (p.Glu1294Ter)
NM_001369.3(DNAH5):c.3886_3887delinsGTGG (p.Ile1296fs)
NM_001369.3(DNAH5):c.3945del (p.Val1316fs)
NM_001369.3(DNAH5):c.4018C>T (p.Gln1340Ter)
NM_001369.3(DNAH5):c.4042del (p.Asp1348fs)
NM_001369.3(DNAH5):c.4102_4111del (p.Leu1368fs)
NM_001369.3(DNAH5):c.4130del (p.Asn1377fs)
NM_001369.3(DNAH5):c.4151_4152del (p.Thr1384fs)
NM_001369.3(DNAH5):c.415_416insGAGTAAACAATGGC (p.Ile139fs)
NM_001369.3(DNAH5):c.417_418insTT (p.Thr140fs)
NM_001369.3(DNAH5):c.4189_4191delinsT (p.Thr1397fs)
NM_001369.3(DNAH5):c.421_422insTGTCTCTTATA (p.Pro141fs)
NM_001369.3(DNAH5):c.4256del (p.Tyr1419fs)
NM_001369.3(DNAH5):c.4304C>A (p.Ser1435Ter)
NM_001369.3(DNAH5):c.4349del (p.Gln1450fs)
NM_001369.3(DNAH5):c.4380_4381del (p.Lys1461fs)
NM_001369.3(DNAH5):c.4467del (p.Ala1490fs)
NM_001369.3(DNAH5):c.4545del (p.Lys1515fs)
NM_001369.3(DNAH5):c.4547T>A (p.Leu1516Ter)
NM_001369.3(DNAH5):c.457_458insGGTAACAG (p.Leu153delinsTrpTer)
NM_001369.3(DNAH5):c.4625_4626insTCCAC (p.Arg1542fs)
NM_001369.3(DNAH5):c.4648C>T (p.Gln1550Ter)
NM_001369.3(DNAH5):c.4660_4661del (p.Glu1554fs)
NM_001369.3(DNAH5):c.4712_4713insAATTG (p.Leu1572fs)
NM_001369.3(DNAH5):c.4743_4744insTCTTATACACATCTGTG (p.Ile1582delinsSerTyrThrHisLeuTer)
NM_001369.3(DNAH5):c.4814_4817delinsCAGGTTTTGCACCGTCAT (p.Lys1605fs)
NM_001369.3(DNAH5):c.4830del (p.Lys1610fs)
NM_001369.3(DNAH5):c.4834del (p.Val1612fs)
NM_001369.3(DNAH5):c.4846dup (p.Ser1616fs)
NM_001369.3(DNAH5):c.4874G>A (p.Trp1625Ter)
NM_001369.3(DNAH5):c.4896G>A (p.Trp1632Ter)
NM_001369.3(DNAH5):c.4922del (p.Gly1641fs)
NM_001369.3(DNAH5):c.5046_5047insCATC (p.Glu1683fs)
NM_001369.3(DNAH5):c.5135_5140delinsCC (p.Leu1712fs)
NM_001369.3(DNAH5):c.5181_5182del (p.Glu1727fs)
NM_001369.3(DNAH5):c.5198_5199delinsT (p.Ser1733fs)
NM_001369.3(DNAH5):c.5360_5361insATCAAAC (p.Trp1788fs)
NM_001369.3(DNAH5):c.5387_5388insAGCAGCACGACGA (p.Gln1797fs)
NM_001369.3(DNAH5):c.5455del (p.Thr1819fs)
NM_001369.3(DNAH5):c.5458G>T (p.Glu1820Ter)
NM_001369.3(DNAH5):c.5489_5490delinsCAATAAACAATC (p.Gly1830fs)
NM_001369.3(DNAH5):c.5590del (p.Leu1864fs)
NM_001369.3(DNAH5):c.5593G>T (p.Glu1865Ter)
NM_001369.3(DNAH5):c.5613_5616del (p.Ile1871fs)
NM_001369.3(DNAH5):c.5802_5803insGACG (p.Ile1935fs)
NM_001369.3(DNAH5):c.5815_5821del (p.Ala1939fs)
NM_001369.3(DNAH5):c.5851_5852del (p.Asp1951fs)
NM_001369.3(DNAH5):c.587_588insTTCACAAAGCCTT (p.Gln197fs)
NM_001369.3(DNAH5):c.6083G>A (p.Trp2028Ter)
NM_001369.3(DNAH5):c.617delinsCTTATACACATC (p.Phe206fs)
NM_001369.3(DNAH5):c.6182del (p.Lys2061fs)
NM_001369.3(DNAH5):c.6379_6381delinsGACACTCAGCA (p.Asn2127fs)
NM_001369.3(DNAH5):c.6439_6440del (p.Lys2147fs)
NM_001369.3(DNAH5):c.6482_6483del (p.Val2161fs)
NM_001369.3(DNAH5):c.6570_6573del (p.Ser2191fs)
NM_001369.3(DNAH5):c.6574A>T (p.Lys2192Ter)
NM_001369.3(DNAH5):c.6574_6576delinsT (p.Lys2192fs)
NM_001369.3(DNAH5):c.6691_6692del (p.Glu2231fs)
NM_001369.3(DNAH5):c.68del (p.Lys23fs)
NM_001369.3(DNAH5):c.6924del (p.Thr2309fs)
NM_001369.3(DNAH5):c.6961del (p.Trp2321fs)
NM_001369.3(DNAH5):c.700dup (p.Leu234fs)
NM_001369.3(DNAH5):c.7024_7030delinsAAT (p.Asp2342fs)
NM_001369.3(DNAH5):c.7052_7053del (p.Ser2351fs)
NM_001369.3(DNAH5):c.7065_7066insTT (p.Asn2356fs) rs2151800607
NM_001369.3(DNAH5):c.7091del (p.Gly2364fs)
NM_001369.3(DNAH5):c.7131_7146del (p.Phe2377fs)
NM_001369.3(DNAH5):c.7240A>T (p.Lys2414Ter)
NM_001369.3(DNAH5):c.7295dup (p.Asp2434fs)
NM_001369.3(DNAH5):c.7359dup (p.Val2454fs)
NM_001369.3(DNAH5):c.7363_7364insCTGT (p.Ile2455fs)
NM_001369.3(DNAH5):c.750_753delinsTG (p.Leu250fs)
NM_001369.3(DNAH5):c.7521del (p.Trp2507fs)
NM_001369.3(DNAH5):c.7548_7549insTATGTGT (p.Glu2517delinsTyrValTer)
NM_001369.3(DNAH5):c.7605_7606insTGGGTGCT (p.Asp2536fs)
NM_001369.3(DNAH5):c.7677T>A (p.Tyr2559Ter)
NM_001369.3(DNAH5):c.7849_7850del (p.Leu2617fs)
NM_001369.3(DNAH5):c.7982_7989del (p.Met2661fs)
NM_001369.3(DNAH5):c.8001G>A (p.Trp2667Ter)
NM_001369.3(DNAH5):c.8044C>T (p.Gln2682Ter)
NM_001369.3(DNAH5):c.8058T>A (p.Tyr2686Ter)
NM_001369.3(DNAH5):c.8068A>T (p.Lys2690Ter)
NM_001369.3(DNAH5):c.8161A>T (p.Lys2721Ter)
NM_001369.3(DNAH5):c.8321G>A (p.Trp2774Ter)
NM_001369.3(DNAH5):c.8340_8341del (p.Lys2780fs)
NM_001369.3(DNAH5):c.8370T>A (p.Tyr2790Ter)
NM_001369.3(DNAH5):c.8403del (p.Trp2801fs)
NM_001369.3(DNAH5):c.8624T>A (p.Leu2875Ter)
NM_001369.3(DNAH5):c.8659G>T (p.Glu2887Ter)
NM_001369.3(DNAH5):c.8659_8660del (p.Glu2887fs)
NM_001369.3(DNAH5):c.8685_8686del (p.Lys2895fs)
NM_001369.3(DNAH5):c.8691T>A (p.Tyr2897Ter)
NM_001369.3(DNAH5):c.8743C>T (p.Gln2915Ter)
NM_001369.3(DNAH5):c.8790_8791del (p.Phe2931fs)
NM_001369.3(DNAH5):c.8993T>A (p.Leu2998Ter)
NM_001369.3(DNAH5):c.9032_9033del (p.Phe3011fs)
NM_001369.3(DNAH5):c.9041_9042del (p.Thr3014fs)
NM_001369.3(DNAH5):c.9139G>T (p.Glu3047Ter)
NM_001369.3(DNAH5):c.9292A>T (p.Arg3098Ter)
NM_001369.3(DNAH5):c.9555T>A (p.Tyr3185Ter)
NM_001369.3(DNAH5):c.9620T>A (p.Leu3207Ter)
NM_001369.3(DNAH5):c.9686dup (p.Glu3230fs)
NM_001369.3(DNAH5):c.9736_9737insG (p.Thr3246fs)
NM_001369.3(DNAH5):c.9761del (p.Lys3254fs)
NM_001369.3(DNAH5):c.9766A>T (p.Lys3256Ter)
NM_001369.3(DNAH5):c.9768_9769delinsTGCGGAACT (p.Lys3256fs)
NM_001369.3(DNAH5):c.9774_9775insTATAAGAGACA (p.Val3259fs)
NM_001369.3(DNAH5):c.9781A>T (p.Lys3261Ter)
NM_001369.3(DNAH5):c.9958del (p.Met3320fs)
NM_001369.3(DNAH5):c.9982_9983insACATA (p.Leu3328fs)
NM_001369.3(DNAH5):c.9990del (p.Gln3331fs) rs2126762332
NM_001378454.1(ALMS1):c.1000A>T (p.Lys334Ter)
NM_001378454.1(ALMS1):c.10121C>A (p.Ser3374Ter)
NM_001378454.1(ALMS1):c.10288A>T (p.Lys3430Ter)
NM_001378454.1(ALMS1):c.10321A>T (p.Lys3441Ter)
NM_001378454.1(ALMS1):c.10346G>A (p.Trp3449Ter)
NM_001378454.1(ALMS1):c.10402G>T (p.Glu3468Ter)
NM_001378454.1(ALMS1):c.1045A>T (p.Lys349Ter)
NM_001378454.1(ALMS1):c.10798G>T (p.Glu3600Ter)
NM_001378454.1(ALMS1):c.10874T>A (p.Leu3625Ter)
NM_001378454.1(ALMS1):c.10984G>T (p.Glu3662Ter)
NM_001378454.1(ALMS1):c.1178C>A (p.Ser393Ter)
NM_001378454.1(ALMS1):c.11943T>A (p.Cys3981Ter)
NM_001378454.1(ALMS1):c.12193G>T (p.Glu4065Ter)
NM_001378454.1(ALMS1):c.1324G>T (p.Glu442Ter)
NM_001378454.1(ALMS1):c.1336A>T (p.Lys446Ter)
NM_001378454.1(ALMS1):c.1645G>T (p.Glu549Ter)
NM_001378454.1(ALMS1):c.2333T>A (p.Leu778Ter)
NM_001378454.1(ALMS1):c.2590G>T (p.Gly864Ter)
NM_001378454.1(ALMS1):c.2686C>T (p.Gln896Ter)
NM_001378454.1(ALMS1):c.2689A>T (p.Lys897Ter)
NM_001378454.1(ALMS1):c.3176T>A (p.Leu1059Ter)
NM_001378454.1(ALMS1):c.3778G>T (p.Glu1260Ter)
NM_001378454.1(ALMS1):c.3868A>T (p.Arg1290Ter)
NM_001378454.1(ALMS1):c.3952G>T (p.Gly1318Ter)
NM_001378454.1(ALMS1):c.4300A>T (p.Lys1434Ter)
NM_001378454.1(ALMS1):c.4351G>T (p.Glu1451Ter)
NM_001378454.1(ALMS1):c.478C>T (p.Gln160Ter)
NM_001378454.1(ALMS1):c.4960A>T (p.Lys1654Ter)
NM_001378454.1(ALMS1):c.5239C>T (p.Gln1747Ter)
NM_001378454.1(ALMS1):c.5553C>A (p.Tyr1851Ter)
NM_001378454.1(ALMS1):c.5560A>T (p.Arg1854Ter)
NM_001378454.1(ALMS1):c.5620A>T (p.Lys1874Ter)
NM_001378454.1(ALMS1):c.5653A>T (p.Lys1885Ter)
NM_001378454.1(ALMS1):c.5830A>T (p.Arg1944Ter)
NM_001378454.1(ALMS1):c.5903C>A (p.Ser1968Ter)
NM_001378454.1(ALMS1):c.5929A>T (p.Lys1977Ter)
NM_001378454.1(ALMS1):c.5964C>A (p.Tyr1988Ter)
NM_001378454.1(ALMS1):c.5966C>A (p.Ser1989Ter) rs777080769
NM_001378454.1(ALMS1):c.5977A>T (p.Lys1993Ter)
NM_001378454.1(ALMS1):c.6070A>T (p.Lys2024Ter)
NM_001378454.1(ALMS1):c.6175C>T (p.Gln2059Ter)
NM_001378454.1(ALMS1):c.6205A>T (p.Lys2069Ter)
NM_001378454.1(ALMS1):c.6487G>T (p.Glu2163Ter)
NM_001378454.1(ALMS1):c.6910A>T (p.Lys2304Ter)
NM_001378454.1(ALMS1):c.7544G>A (p.Trp2515Ter)
NM_001378454.1(ALMS1):c.7777G>T (p.Glu2593Ter)
NM_001378454.1(ALMS1):c.7806T>A (p.Cys2602Ter)
NM_001378454.1(ALMS1):c.7898T>A (p.Leu2633Ter)
NM_001378454.1(ALMS1):c.8077G>T (p.Glu2693Ter)
NM_001378454.1(ALMS1):c.8435T>A (p.Leu2812Ter)
NM_001378454.1(ALMS1):c.8490T>A (p.Cys2830Ter)
NM_001378454.1(ALMS1):c.9064C>T (p.Gln3022Ter)
NM_001378454.1(ALMS1):c.9121A>T (p.Arg3041Ter)
NM_001378454.1(ALMS1):c.9226A>T (p.Lys3076Ter)
NM_001378454.1(ALMS1):c.9427A>T (p.Lys3143Ter)
NM_001378454.1(ALMS1):c.9823A>T (p.Lys3275Ter)
NM_001378454.1(ALMS1):c.9850C>T (p.Gln3284Ter)
NM_001378454.1(ALMS1):c.985G>T (p.Glu329Ter)
NM_017777.4(MKS1):c.1009G>T (p.Glu337Ter)
NM_017777.4(MKS1):c.1032_1035del (p.Ser345fs)
NM_017777.4(MKS1):c.1071del (p.Cys358fs) rs762377424
NM_017777.4(MKS1):c.1383T>A (p.Tyr461Ter)
NM_017777.4(MKS1):c.1411_1412delinsT (p.Glu471fs)
NM_017777.4(MKS1):c.1480C>T (p.Gln494Ter)
NM_017777.4(MKS1):c.241C>T (p.Gln81Ter)
NM_017777.4(MKS1):c.435del (p.Thr146fs)
NM_017777.4(MKS1):c.537_538del (p.Arg180fs)
NM_017777.4(MKS1):c.632_633del (p.Gly211fs)
NM_017777.4(MKS1):c.658A>T (p.Lys220Ter) rs2143800757
NM_017777.4(MKS1):c.715_716del (p.Lys239fs)
NM_017777.4(MKS1):c.727_728del (p.Thr243fs)
NM_017777.4(MKS1):c.782G>A (p.Trp261Ter)
NM_017777.4(MKS1):c.832G>T (p.Glu278Ter)
NM_017777.4(MKS1):c.946_947del (p.Asn316fs)
NM_017777.4(MKS1):c.949G>T (p.Gly317Ter)
NM_017777.4(MKS1):c.992del (p.Tyr331fs)
NM_024649.5(BBS1):c.1009G>T (p.Glu337Ter) rs1856358703
NM_024649.5(BBS1):c.1009del (p.Glu337fs)
NM_024649.5(BBS1):c.1143C>A (p.Tyr381Ter) rs1021331909
NM_024649.5(BBS1):c.1198A>T (p.Lys400Ter) rs1421044140
NM_024649.5(BBS1):c.1214_1215del (p.Thr405fs)
NM_024649.5(BBS1):c.1253del (p.Pro418fs)
NM_024649.5(BBS1):c.1498A>T (p.Lys500Ter)
NM_024649.5(BBS1):c.214A>T (p.Lys72Ter) rs1856007963
NM_024649.5(BBS1):c.406C>T (p.Gln136Ter) rs1856011738
NM_024649.5(BBS1):c.434dup (p.Asp145fs)
NM_024649.5(BBS1):c.700G>T (p.Glu234Ter) rs35520756
NM_024649.5(BBS1):c.71T>A (p.Leu24Ter) rs1855932058
NM_024649.5(BBS1):c.734_735del (p.Pro245fs)
NM_024649.5(BBS1):c.965G>A (p.Trp322Ter) rs1856354695
NM_024649.5(BBS1):c.966G>A (p.Trp322Ter)
NM_031885.5(BBS2):c.1066G>T (p.Glu356Ter) rs1192804794
NM_031885.5(BBS2):c.1088T>A (p.Leu363Ter)
NM_031885.5(BBS2):c.1245_1261del (p.Leu416fs)
NM_031885.5(BBS2):c.1260_1262delinsTGTGTAT (p.Glu420fs)
NM_031885.5(BBS2):c.1273_1274insAACTGGAGAGGTT (p.Gly425fs)
NM_031885.5(BBS2):c.1313_1314insT (p.Ser439fs)
NM_031885.5(BBS2):c.1353_1354insTCAGTTTTGTCATCTTT (p.Pro452fs)
NM_031885.5(BBS2):c.1402C>T (p.Gln468Ter) rs1791390525
NM_031885.5(BBS2):c.1461del (p.Ser488fs)
NM_031885.5(BBS2):c.1502_1503del (p.Phe501fs)
NM_031885.5(BBS2):c.1654_1655insCT (p.Gly552fs)
NM_031885.5(BBS2):c.1700del (p.Ile567fs)
NM_031885.5(BBS2):c.1747G>T (p.Glu583Ter)
NM_031885.5(BBS2):c.1778T>A (p.Leu593Ter) rs1964154734
NM_031885.5(BBS2):c.1795_1796del (p.Lys599fs)
NM_031885.5(BBS2):c.217C>T (p.Gln73Ter) rs199940492
NM_031885.5(BBS2):c.289C>T (p.Gln97Ter) rs1964676925
NM_031885.5(BBS2):c.302T>A (p.Leu101Ter) rs1964676419
NM_031885.5(BBS2):c.309_310insCACA (p.Asp104fs)
NM_031885.5(BBS2):c.343G>T (p.Glu115Ter) rs1964674209
NM_031885.5(BBS2):c.437del (p.Gly146fs) rs1170844318
NM_031885.5(BBS2):c.491_501del (p.Asn164fs)
NM_031885.5(BBS2):c.497T>A (p.Leu166Ter) rs1964558577
NM_031885.5(BBS2):c.583G>T (p.Glu195Ter) rs1964531867
NM_031885.5(BBS2):c.619_620del (p.Thr207fs)
NM_031885.5(BBS2):c.691A>T (p.Lys231Ter)
NM_031885.5(BBS2):c.721A>T (p.Lys241Ter) rs1964413369
NM_031885.5(BBS2):c.766G>T (p.Gly256Ter)
NM_031885.5(BBS2):c.784dup (p.Thr262fs)
NM_031885.5(BBS2):c.802A>T (p.Lys268Ter)
NM_147127.5(EVC2):c.1012C>T (p.Gln338Ter)
NM_147127.5(EVC2):c.1186G>T (p.Glu396Ter)
NM_147127.5(EVC2):c.1261_1262insTATACACATCTGTGATC (p.Ser421fs)
NM_147127.5(EVC2):c.1292_1296del (p.Val431fs)
NM_147127.5(EVC2):c.1313T>A (p.Leu438Ter)
NM_147127.5(EVC2):c.1313del (p.Leu438fs)
NM_147127.5(EVC2):c.1463del (p.Gly488fs)
NM_147127.5(EVC2):c.1511del (p.Gly504fs)
NM_147127.5(EVC2):c.1551_1552insTTTCT (p.Gln518fs)
NM_147127.5(EVC2):c.1552delinsGAGACAGT (p.Gln518fs)
NM_147127.5(EVC2):c.1680_1681del (p.Lys560fs)
NM_147127.5(EVC2):c.1852delinsTCTTT (p.Ala618fs)
NM_147127.5(EVC2):c.1872_1873delinsA (p.Gln625fs)
NM_147127.5(EVC2):c.1896C>G (p.Tyr632Ter)
NM_147127.5(EVC2):c.1997dup (p.Leu667fs)
NM_147127.5(EVC2):c.2005C>T (p.Gln669Ter)
NM_147127.5(EVC2):c.2053del (p.Glu685fs)
NM_147127.5(EVC2):c.2122_2125delinsAGA (p.His708fs)
NM_147127.5(EVC2):c.2219delinsTTTCT (p.Thr740fs)
NM_147127.5(EVC2):c.2394_2395del (p.Asp799fs)
NM_147127.5(EVC2):c.257_260del (p.Val86fs)
NM_147127.5(EVC2):c.2737A>T (p.Lys913Ter)
NM_147127.5(EVC2):c.2764A>T (p.Lys922Ter)
NM_147127.5(EVC2):c.2842_2848del (p.Leu948fs)
NM_147127.5(EVC2):c.2851G>T (p.Glu951Ter)
NM_147127.5(EVC2):c.2855_2858delinsCACTCA (p.Arg952fs)
NM_147127.5(EVC2):c.2856_2857del (p.Arg952fs)
NM_147127.5(EVC2):c.2878G>T (p.Glu960Ter)
NM_147127.5(EVC2):c.3043G>T (p.Glu1015Ter)
NM_147127.5(EVC2):c.3169_3182del (p.Ile1057fs)
NM_147127.5(EVC2):c.316A>T (p.Lys106Ter)
NM_147127.5(EVC2):c.3279_3282del (p.Glu1094fs)
NM_147127.5(EVC2):c.3411del (p.Thr1138fs)
NM_147127.5(EVC2):c.3459_3460del (p.Gln1154fs)
NM_147127.5(EVC2):c.3535C>T (p.Gln1179Ter)
NM_147127.5(EVC2):c.437_438del (p.Ile146fs)
NM_147127.5(EVC2):c.466del (p.Arg156fs)
NM_147127.5(EVC2):c.636_637delinsT (p.Thr213fs)
NM_147127.5(EVC2):c.711_717del (p.Asp238fs)
NM_147127.5(EVC2):c.750_751delinsA (p.Gly251fs)
NM_147127.5(EVC2):c.775_781del (p.Leu259fs)
NM_147127.5(EVC2):c.916delinsGACGA (p.Phe306fs)
NM_147127.5(EVC2):c.961del (p.Val321fs)
NM_153717.3(EVC):c.1068_1069del (p.Leu357fs)
NM_153717.3(EVC):c.1081_1083delinsA (p.Gln361fs)
NM_153717.3(EVC):c.1128_1132del (p.His377fs)
NM_153717.3(EVC):c.1148_1152del (p.Glu383fs)
NM_153717.3(EVC):c.1158_1159insACTGTCTCTTATA (p.Leu387fs)
NM_153717.3(EVC):c.1212_1216del (p.Glu405fs)
NM_153717.3(EVC):c.1284_1287del (p.Phe429fs)
NM_153717.3(EVC):c.1290G>A (p.Trp430Ter)
NM_153717.3(EVC):c.1304_1307dup (p.Phe436fs)
NM_153717.3(EVC):c.1361_1362delinsT (p.His454fs)
NM_153717.3(EVC):c.13_14insCTCA (p.Gly5fs)
NM_153717.3(EVC):c.1409del (p.Gln470fs)
NM_153717.3(EVC):c.1572del (p.Phe525fs)
NM_153717.3(EVC):c.1620_1621del (p.Gln541fs)
NM_153717.3(EVC):c.1765del (p.Gln589fs)
NM_153717.3(EVC):c.1803del (p.Ser602fs)
NM_153717.3(EVC):c.1880_1881insGA (p.Glu628fs)
NM_153717.3(EVC):c.2026G>T (p.Glu676Ter)
NM_153717.3(EVC):c.2041G>T (p.Glu681Ter)
NM_153717.3(EVC):c.2191G>T (p.Glu731Ter)
NM_153717.3(EVC):c.228_234del (p.Ser77fs)
NM_153717.3(EVC):c.2436_2437del (p.Lys813fs)
NM_153717.3(EVC):c.26_36del (p.Lys9fs)
NM_153717.3(EVC):c.26del (p.Lys9fs)
NM_153717.3(EVC):c.29_30insA (p.Ser10fs)
NM_153717.3(EVC):c.37_40del (p.Arg13fs)
NM_153717.3(EVC):c.37del (p.Arg13fs)
NM_153717.3(EVC):c.39_40del (p.Leu14fs)
NM_153717.3(EVC):c.3_4insTATAAGAGACA (p.Ala2fs)
NM_153717.3(EVC):c.40_41insACTGTCTCTTA (p.Leu14fs)
NM_153717.3(EVC):c.43_44insGTATAAGAGACAG (p.Leu15fs)
NM_153717.3(EVC):c.48_55del (p.Gly17fs)
NM_153717.3(EVC):c.54_61del (p.Asp19fs)
NM_153717.3(EVC):c.59_60insA (p.Leu21fs)
NM_153717.3(EVC):c.60_61insACTGTCTCTTATA (p.Leu21fs)
NM_153717.3(EVC):c.636T>A (p.Cys212Ter)
NM_153717.3(EVC):c.64_79del (p.Arg22fs)
NM_153717.3(EVC):c.650_651del (p.His217fs)
NM_153717.3(EVC):c.708del (p.Phe236fs)
NM_153717.3(EVC):c.787_788delinsA (p.Ser263fs)
NM_153717.3(EVC):c.840_846del (p.Ser281fs)
NM_153717.3(EVC):c.857C>A (p.Ser286Ter)
NM_153717.3(EVC):c.8_9insTGCTGCTGAGTGT (p.Gly4fs)
NM_153717.3(EVC):c.910del (p.Arg304fs)
NM_153717.3(EVC):c.985_986insATCTT (p.Val329fs)
NM_153717.3(EVC):c.999_1000insAACATTC (p.Cys334fs)

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