ClinVar Miner

List of variants reported as benign for Meckel syndrome, type 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 95
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HGVS dbSNP
NM_001080522.2(CC2D2A):c.1041C>T (p.Asp347=) rs371086728
NM_001080522.2(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937
NM_001080522.2(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001080522.2(CC2D2A):c.2117G>A (p.Arg706Gln) rs778205727
NM_001080522.2(CC2D2A):c.3183-8T>C rs13121363
NM_001080522.2(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948
NM_001080522.2(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237
NM_001080522.2(CC2D2A):c.721G>A (p.Glu241Lys) rs62000428
NM_001082538.2(TCTN1):c.473-6_473-4delAAA rs10577377
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509
NM_001082538.3(TCTN1):c.1396G>T (p.Gly466Cys) rs118096349
NM_001082538.3(TCTN1):c.327A>G (p.Ser109=) rs140230455
NM_001082538.3(TCTN1):c.473-10T>A rs12307716
NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr) rs117896500
NM_001082538.3(TCTN1):c.894C>T (p.Leu298=) rs16940927
NM_001173990.2(TMEM216):c.432-11_432-10insA rs11382548
NM_001173990.3(TMEM216):c.*558G>A rs7607
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=) rs147295026
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997
NM_015272.5(RPGRIP1L):c.206G>A (p.Arg69His) rs574091991
NM_015272.5(RPGRIP1L):c.2153-4G>C rs201380599
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291
NM_015272.5(RPGRIP1L):c.3295-8del rs113083177
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543
NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His) rs74957591
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071
NM_015681.5(B9D1):c.181C>T (p.Arg61Trp) rs73980038
NM_015681.5(B9D1):c.237C>G (p.Pro79=) rs149051059
NM_015681.5(B9D1):c.580T>C (p.Leu194=) rs7212549
NM_017777.3(MKS1):c.1388G>A (p.Arg463Gln) rs201619500
NM_017777.3(MKS1):c.1436G>A (p.Arg479His) rs111315726
NM_017777.3(MKS1):c.213C>G (p.Asp71Glu) rs142813109
NM_017777.3(MKS1):c.858+9A>G rs3826300
NM_024809.5(TCTN2):c.*330_*331insACTC rs56918215
NM_024809.5(TCTN2):c.-2G>A rs141768405
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=) rs7966867
NM_024809.5(TCTN2):c.1585C>G (p.Leu529Val) rs113301547
NM_024809.5(TCTN2):c.2041T>C (p.Leu681=) rs112158562
NM_024809.5(TCTN2):c.225C>T (p.Asn75=) rs73416301
NM_024809.5(TCTN2):c.360C>G (p.Leu120=) rs142452647
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln) rs79251326
NM_024809.5(TCTN2):c.615C>T (p.Gly205=) rs147485641
NM_024809.5(TCTN2):c.635A>G (p.Asn212Ser) rs139927033
NM_024809.5(TCTN2):c.654C>T (p.Leu218=) rs138897437
NM_024809.5(TCTN2):c.720C>G (p.Pro240=) rs149430216
NM_024809.5(TCTN2):c.810C>T (p.Asp270=) rs144567556
NM_024809.5(TCTN2):c.83-4C>T rs73416299
NM_024809.5(TCTN2):c.873A>G (p.Ala291=) rs73418153
NM_024809.5(TCTN2):c.898C>T (p.Leu300=) rs77804131
NM_025114.3(CEP290):c.1522+6C>T rs148446546
NM_025114.3(CEP290):c.1558T>C (p.Phe520Leu) rs147371999
NM_025114.3(CEP290):c.1624-5T>C rs142742071
NM_025114.3(CEP290):c.1716A>G (p.Leu572=) rs372349042
NM_025114.3(CEP290):c.1991A>G (p.Asp664Gly) rs79705698
NM_025114.3(CEP290):c.2268G>A (p.Ser756=) rs2468255
NM_025114.3(CEP290):c.2484-8_2484-4dupGTTTT rs745522483
NM_025114.3(CEP290):c.251-10A>T rs190383141
NM_025114.3(CEP290):c.2512A>G (p.Lys838Glu) rs11104738
NM_025114.3(CEP290):c.2717T>G (p.Leu906Trp) rs7970228
NM_025114.3(CEP290):c.2827A>G (p.Ile943Val) rs75220808
NM_025114.3(CEP290):c.3465G>A (p.Leu1155=) rs150138016
NM_025114.3(CEP290):c.3574-9delT rs10717563
NM_025114.3(CEP290):c.3654T>C (p.Leu1218=) rs201838492
NM_025114.3(CEP290):c.3710G>A (p.Arg1237His) rs7307793
NM_025114.3(CEP290):c.384T>C (p.Asp128=) rs76267039
NM_025114.3(CEP290):c.3955T>C (p.Leu1319=) rs182851622
NM_025114.3(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.3(CEP290):c.4119A>G (p.Lys1373=) rs117122459
NM_025114.3(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.3(CEP290):c.5199A>G (p.Gln1733=) rs79644671
NM_025114.3(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020
NM_025114.3(CEP290):c.5322C>T (p.Leu1774=) rs117370446
NM_025114.3(CEP290):c.5506A>G (p.Ile1836Val) rs11104729
NM_025114.3(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025
NM_025114.3(CEP290):c.6522+12dupT rs11405846
NM_025114.3(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433
NM_025114.3(CEP290):c.829G>C (p.Glu277Gln) rs45502896
NM_025114.3(CEP290):c.853-12_853-11insG rs71082425
NM_030578.4(B9D2):c.195C>T (p.Phe65=) rs34088631
NM_030578.4(B9D2):c.33A>G (p.Ile11Met) rs2241714
NM_153240.4(NPHP3):c.-69A>G rs13099099
NM_153240.4(NPHP3):c.3125+12dupT rs11396595
NM_153240.5(NPHP3):c.3759G>A (p.Leu1253=) rs6794496
NM_153704.5(TMEM67):c.1066-3C>T rs3097427
NM_153704.5(TMEM67):c.1810A>G (p.Ile604Val) rs3134031
NM_153704.5(TMEM67):c.186T>C (p.Cys62=) rs115660279
NM_153704.5(TMEM67):c.2397T>C (p.Asp799=) rs117195541
NM_153704.5(TMEM67):c.2892A>C (p.Thr964=) rs16916221
NM_153704.5(TMEM67):c.2952A>G (p.Ala984=) rs115967793
NM_153704.5(TMEM67):c.781G>A (p.Asp261Asn) rs35793208

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