ClinVar Miner

List of variants reported as benign for Meckel syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 287
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_030578.4(B9D2):c.-5+107G>A rs2241712 0.71256
NM_030578.4(B9D2):c.33A>G (p.Ile11Met) rs2241714 0.71244
NC_000019.10:g.41354391A>G rs1800469 0.69508
NM_001378615.1(CC2D2A):c.3183-8T>C rs13121363 0.69106
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65135
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031 0.64845
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=) rs7966867 0.54127
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_024809.5(TCTN2):c.1099+19T>C rs7137946 0.50815
NM_024809.5(TCTN2):c.891+7G>A rs7313032 0.42667
NM_015272.5(RPGRIP1L):c.2959-32G>A rs7203525 0.39281
NM_024809.5(TCTN2):c.1393+7C>T rs7298440 0.36136
NM_001077418.3(TMEM231):c.582+17T>A rs2738801 0.27293
NM_001077418.3(TMEM231):c.-6G>C rs3743602 0.21908
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627 0.20422
NM_001378615.1(CC2D2A):c.124-6C>T rs1861049 0.15686
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14328
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320 0.10935
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119 0.10881
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val) rs3743601 0.10494
NM_001378615.1(CC2D2A):c.2003+19C>T rs17476642 0.09677
NM_001077418.3(TMEM231):c.813G>A (p.Val271=) rs2242406 0.08287
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=) rs1861050 0.07770
NM_017777.4(MKS1):c.1671G>C (p.Leu557=) rs11548967 0.06374
NM_030578.4(B9D2):c.*18G>A rs1800468 0.05927
NM_024809.5(TCTN2):c.873A>G (p.Ala291=) rs73418153 0.05717
NM_024809.5(TCTN2):c.225C>T (p.Asn75=) rs73416301 0.05714
NM_024809.5(TCTN2):c.83-4C>T rs73416299 0.05712
NM_025114.4(CEP290):c.6357+20A>T rs7971699 0.05562
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05381
NM_025114.4(CEP290):c.5709+18C>A rs7973969 0.05367
NM_025114.4(CEP290):c.442-19T>A rs113132803 0.05334
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758 0.04663
NM_001378615.1(CC2D2A):c.777C>T (p.His259=) rs2286976 0.04284
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=) rs16916221 0.04084
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095 0.03933
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_001082538.3(TCTN1):c.473-10T>A rs12307716 0.02637
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_001077418.3(TMEM231):c.582+8C>G rs144252983 0.02257
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997 0.02188
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_153704.6(TMEM67):c.1518+18T>C rs73694953 0.01972
NM_001082538.3(TCTN1):c.894C>T (p.Leu298=) rs16940927 0.01924
NM_001077418.3(TMEM231):c.582+3A>G rs114290622 0.01823
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_001082538.3(TCTN1):c.1396G>T (p.Gly466Cys) rs118096349 0.01517
NM_015681.6(B9D1):c.580T>C (p.Leu194=) rs7212549 0.01478
NM_024809.5(TCTN2):c.1612+12C>T rs117614122 0.01410
NM_015272.5(RPGRIP1L):c.2959-15T>C rs11863101 0.01368
NM_030578.4(B9D2):c.215-16C>G rs3087453 0.01363
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=) rs78196225 0.01307
NM_017777.4(MKS1):c.1273+11G>A rs16942826 0.01295
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_015681.6(B9D1):c.181C>T (p.Arg61Trp) rs73980038 0.01073
NM_024809.5(TCTN2):c.898C>T (p.Leu300=) rs77804131 0.01030
NM_024809.5(TCTN2):c.2041T>C (p.Leu681=) rs112158562 0.01028
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln) rs79251326 0.00978
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016 0.00815
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671 0.00740
NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys) rs62000428 0.00732
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509 0.00723
NM_001082538.3(TCTN1):c.220+12G>C rs76843552 0.00719
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_001378615.1(CC2D2A):c.541-20T>G rs114335547 0.00669
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948 0.00656
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937 0.00644
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
NM_153704.6(TMEM67):c.506+18G>T rs116705535 0.00585
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291 0.00524
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859 0.00517
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_017777.4(MKS1):c.1436G>A (p.Arg479His) rs111315726 0.00476
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=) rs201636741 0.00468
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_153704.6(TMEM67):c.2952A>G (p.Ala984=) rs115967793 0.00439
NM_024809.5(TCTN2):c.810C>T (p.Asp270=) rs144567556 0.00376
NM_001077418.3(TMEM231):c.891G>A (p.Val297=) rs149888762 0.00375
NM_024809.5(TCTN2):c.1585C>G (p.Leu529Val) rs113301547 0.00373
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_153704.6(TMEM67):c.507-19T>C rs138589757 0.00344
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747 0.00322
NM_025114.4(CEP290):c.6960+10G>A rs75011402 0.00305
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) rs142813109 0.00303
NM_015681.6(B9D1):c.237C>G (p.Pro79=) rs149051059 0.00295
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698 0.00278
NM_001378615.1(CC2D2A):c.2475C>T (p.Ile825=) rs113835820 0.00275
NM_030578.4(B9D2):c.195C>T (p.Phe65=) rs34088631 0.00261
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val) rs140067659 0.00245
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
NM_024809.5(TCTN2):c.720C>G (p.Pro240=) rs149430216 0.00236
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln) rs201619500 0.00235
NM_153704.6(TMEM67):c.25G>A (p.Val9Met) rs199961375 0.00225
NM_024809.5(TCTN2):c.-2G>A rs141768405 0.00224
NM_030578.4(B9D2):c.88+6C>T rs112498529 0.00205
NM_025114.4(CEP290):c.251-11T>A rs200666995 0.00198
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=) rs61742381 0.00195
NM_001378615.1(CC2D2A):c.4202C>G (p.Thr1401Ser) rs143947747 0.00194
NM_024809.5(TCTN2):c.1985-12A>G rs78123598 0.00188
NM_024809.5(TCTN2):c.654C>T (p.Leu218=) rs138897437 0.00188
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr) rs202215735 0.00182
NM_001378615.1(CC2D2A):c.2487-11C>G rs374783761 0.00168
NM_024809.5(TCTN2):c.360C>G (p.Leu120=) rs142452647 0.00165
NM_015272.5(RPGRIP1L):c.2153-4G>C rs201380599 0.00156
NM_030578.4(B9D2):c.183C>T (p.Ile61=) rs140901774 0.00155
NM_153704.6(TMEM67):c.186T>C (p.Cys62=) rs115660279 0.00145
NM_001077418.3(TMEM231):c.804C>T (p.Phe268=) rs149118721 0.00144
NM_024809.5(TCTN2):c.615C>T (p.Gly205=) rs147485641 0.00143
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233 0.00128
NM_001378615.1(CC2D2A):c.2813T>C (p.Met938Thr) rs61740537 0.00123
NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg) rs186264635 0.00120
NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His) rs74957591 0.00118
NM_017777.4(MKS1):c.261+7C>T rs200156751 0.00117
NM_025114.4(CEP290):c.1716A>G (p.Leu572=) rs372349042 0.00107
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=) rs181248369 0.00106
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=) rs147295026 0.00101
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215 0.00091
NM_001077418.3(TMEM231):c.900T>C (p.Ile300=) rs199628375 0.00089
NM_153704.6(TMEM67):c.714+18A>T rs140881754 0.00086
NM_001378615.1(CC2D2A):c.1017+7G>A rs137919504 0.00080
NM_001378615.1(CC2D2A):c.1956G>A (p.Pro652=) rs375131519 0.00080
NM_001082538.3(TCTN1):c.341+11G>A rs188296885 0.00079
NM_001077418.3(TMEM231):c.471G>A (p.Ala157=) rs375273015 0.00077
NM_025114.4(CEP290):c.6646-16T>C rs367543543 0.00076
NM_017777.4(MKS1):c.749+13A>G rs199550514 0.00072
NM_153704.6(TMEM67):c.2241+15A>G rs201043898 0.00072
NM_024809.5(TCTN2):c.888G>A (p.Pro296=) rs116845100 0.00068
NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr) rs117896500 0.00066
NM_017777.4(MKS1):c.1024+13C>G rs374632643 0.00065
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933 0.00063
NM_025114.4(CEP290):c.3574-3C>G rs781450470 0.00062
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782 0.00061
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433 0.00058
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=) rs371086728 0.00056
NM_017777.4(MKS1):c.1498A>G (p.Met500Val) rs144635826 0.00054
NM_001378615.1(CC2D2A):c.4648C>T (p.Leu1550=) rs199861496 0.00051
NM_024809.5(TCTN2):c.1100-17T>C rs538341461 0.00049
NM_001082538.3(TCTN1):c.327A>G (p.Ser109=) rs140230455 0.00046
NM_024809.5(TCTN2):c.635A>G (p.Asn212Ser) rs139927033 0.00046
NM_025114.4(CEP290):c.2595C>T (p.Leu865=) rs114632733 0.00046
NM_153704.6(TMEM67):c.369C>T (p.Ala123=) rs115640152 0.00046
NM_017777.4(MKS1):c.515+12C>T rs372527189 0.00036
NM_001378615.1(CC2D2A):c.3399-15T>C rs181612746 0.00033
NM_025114.4(CEP290):c.5226+19T>C rs547955106 0.00031
NM_025114.4(CEP290):c.6078A>G (p.Gln2026=) rs763570903 0.00029
NM_024809.5(TCTN2):c.1643C>T (p.Pro548Leu) rs199931630 0.00027
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met) rs201954181 0.00026
NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237 0.00026
NM_001378615.1(CC2D2A):c.2259C>T (p.Val753=) rs538922641 0.00023
NM_025114.4(CEP290):c.3574-15T>A rs565414938 0.00022
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_001077418.3(TMEM231):c.140-28C>G rs375353411 0.00019
NM_025114.4(CEP290):c.384T>C (p.Asp128=) rs76267039 0.00017
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=) rs182851622 0.00016
NM_001378615.1(CC2D2A):c.1830G>A (p.Pro610=) rs185072004 0.00014
NM_030578.4(B9D2):c.513C>T (p.Tyr171=) rs143680317 0.00014
NM_015272.5(RPGRIP1L):c.1719C>T (p.Ala573=) rs375774377 0.00012
NM_015681.6(B9D1):c.245-19C>A rs774504181 0.00012
NM_024809.5(TCTN2):c.565-18T>G rs368179378 0.00012
NM_153704.6(TMEM67):c.312+14A>G rs202135944 0.00012
NM_001378615.1(CC2D2A):c.717+11T>C rs184351317 0.00011
NM_015681.6(B9D1):c.516C>T (p.Asn172=) rs149758860 0.00011
NM_025114.4(CEP290):c.5521G>A (p.Glu1841Lys) rs200158553 0.00011
NM_001378615.1(CC2D2A):c.2117G>A (p.Arg706Gln) rs778205727 0.00010
NM_025114.4(CEP290):c.6806T>C (p.Ile2269Thr) rs200090371 0.00010
NM_001378615.1(CC2D2A):c.3872T>C (p.Ile1291Thr) rs370492044 0.00009
NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu) rs201465430 0.00009
NM_153704.6(TMEM67):c.1511C>A (p.Ser504Tyr) rs114655330 0.00009
NM_001077418.3(TMEM231):c.376C>T (p.Leu126=) rs557695110 0.00007
NM_001082538.3(TCTN1):c.1636-18T>G rs574360617 0.00007
NM_015681.6(B9D1):c.597C>G (p.Pro199=) rs753785719 0.00007
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736 0.00007
NM_025114.4(CEP290):c.4695A>G (p.Lys1565=) rs189871589 0.00007
NM_001082538.3(TCTN1):c.880C>T (p.Leu294=) rs371899538 0.00006
NM_015272.5(RPGRIP1L):c.1260C>T (p.Leu420=) rs760245904 0.00006
NM_025114.4(CEP290):c.5227-9A>G rs571981633 0.00006
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163 0.00004
NM_017777.4(MKS1):c.1014G>A (p.Leu338=) rs201998680 0.00004
NM_153704.6(TMEM67):c.2440-6T>C rs532418578 0.00002
NM_001378615.1(CC2D2A):c.541-5G>A rs369022150 0.00001
NM_015272.5(RPGRIP1L):c.1808G>A (p.Gly603Asp) rs537925312 0.00001
NM_015272.5(RPGRIP1L):c.1944G>A (p.Val648=) rs532450170 0.00001
NM_015272.5(RPGRIP1L):c.2030C>T (p.Thr677Ile) rs532768944 0.00001
NM_015272.5(RPGRIP1L):c.2522A>G (p.His841Arg) rs766357656 0.00001
NM_025114.4(CEP290):c.2587-19T>C rs755086278 0.00001
NC_000016.9:g.(?_75573892)_(75575373_?)dup
NC_000016.9:g.(?_75573892)_(75576601_?)dup
NM_001082538.3(TCTN1):c.1636-18TC[2] rs201913681
NM_001082538.3(TCTN1):c.221-7dup rs768471137
NM_001082538.3(TCTN1):c.473-10del rs771463400
NM_001082538.3(TCTN1):c.473-10dup rs771463400
NM_001082538.3(TCTN1):c.473-4dup
NM_001378615.1(CC2D2A):c.1607+12del
NM_001378615.1(CC2D2A):c.1978G>A (p.Val660Ile) rs16892134
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001378615.1(CC2D2A):c.248-16del
NM_001378615.1(CC2D2A):c.2922+10dup rs752271495
NM_001378615.1(CC2D2A):c.4066-12del rs752759735
NM_001378615.1(CC2D2A):c.439-13del
NM_001378615.1(CC2D2A):c.4675-9dup
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_015272.5(RPGRIP1L):c.1029+19del
NM_015272.5(RPGRIP1L):c.1104-5dup rs2151199111
NM_015272.5(RPGRIP1L):c.1120C>T (p.His374Tyr) rs200773352
NM_015272.5(RPGRIP1L):c.123A>G (p.Ala41=) rs569208946
NM_015272.5(RPGRIP1L):c.206G>A (p.Arg69His) rs574091991
NM_015272.5(RPGRIP1L):c.230+13dup
NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr) rs574430009
NM_015272.5(RPGRIP1L):c.3220+13T>C rs376659273
NM_015272.5(RPGRIP1L):c.3221-7dup
NM_015272.5(RPGRIP1L):c.3295-8del rs113083177
NM_015272.5(RPGRIP1L):c.3432+10dup
NM_015272.5(RPGRIP1L):c.3433-20dup
NM_015272.5(RPGRIP1L):c.3617-13del
NM_015272.5(RPGRIP1L):c.3617-13dup rs750499169
NM_015272.5(RPGRIP1L):c.530-3del rs1567882035
NM_015272.5(RPGRIP1L):c.632+16del rs559978421
NM_015681.6(B9D1):c.63+19dup rs2152278724
NM_017777.4(MKS1):c.1096-5del rs2143753890
NM_017777.4(MKS1):c.1588+10del
NM_017777.4(MKS1):c.645-13del
NM_017777.4(MKS1):c.915+19_915+21del rs3217067
NM_024809.5(TCTN2):c.1506-17G>A
NM_025114.4(CEP290):c.181-10del rs1302625844
NM_025114.4(CEP290):c.181-10dup
NM_025114.4(CEP290):c.1825-17CT[2] rs367600498
NM_025114.4(CEP290):c.2052+15dup
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) rs200454865
NM_025114.4(CEP290):c.2218-13dup rs143621850
NM_025114.4(CEP290):c.2218-5del rs143621850
NM_025114.4(CEP290):c.2268= (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.2268A>G (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.2484-3dup
NM_025114.4(CEP290):c.2484-9del rs1189055838
NM_025114.4(CEP290):c.251-11del rs752284551
NM_025114.4(CEP290):c.251-19dup rs752284551
NM_025114.4(CEP290):c.3574-10_3574-9del
NM_025114.4(CEP290):c.3574-16dup rs10717563
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.4(CEP290):c.4195-3del
NM_025114.4(CEP290):c.4195-3dup
NM_025114.4(CEP290):c.441+18del
NM_025114.4(CEP290):c.441+18dup
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-22_442-21dup rs199511358
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_025114.4(CEP290):c.495+8dup
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.5227-23dup rs747878752
NM_025114.4(CEP290):c.5364+14C>T
NM_025114.4(CEP290):c.6270+18del rs371141771
NM_025114.4(CEP290):c.6522+11_6522+12del
NM_025114.4(CEP290):c.6522+11_6522+12dup
NM_025114.4(CEP290):c.6522+12del
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025114.4(CEP290):c.6523-12dup rs1216267478
NM_025114.4(CEP290):c.6523-6del
NM_025114.4(CEP290):c.669+6del rs761225874
NM_025114.4(CEP290):c.670-3dup
NM_025114.4(CEP290):c.6819-15del
NM_025114.4(CEP290):c.6819-15dup
NM_025114.4(CEP290):c.7129+18dup
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) rs569673313
NM_025114.4(CEP290):c.942+11del
NM_025114.4(CEP290):c.942+4dup rs558914208
NM_153704.6(TMEM67):c.1960+17dup rs1475466139
NM_153704.6(TMEM67):c.2010A>G (p.Thr670=) rs137989705
NM_153704.6(TMEM67):c.2765-6dup
NM_153704.6(TMEM67):c.313-13del rs367575555
NM_153704.6(TMEM67):c.651+22del
NM_153704.6(TMEM67):c.869+20T>C

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