ClinVar Miner

List of variants in gene SRP72 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 190
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HGVS dbSNP gnomAD frequency
NM_006947.4(SRP72):c.826-23A>G rs7700034 0.40560
NM_006947.4(SRP72):c.231-273G>T rs17086803 0.36646
NM_006947.4(SRP72):c.957+263T>C rs6816218 0.36236
NM_006947.4(SRP72):c.355-111T>C rs4615235 0.33106
NM_006947.4(SRP72):c.610+35C>T rs11610 0.33008
NM_006947.4(SRP72):c.1502+161C>T rs17086883 0.32627
NM_006947.4(SRP72):c.1225-292T>C rs12646890 0.20251
NM_006947.4(SRP72):c.1321-266del rs35626479 0.19739
NM_006947.4(SRP72):c.354+179A>G rs4340842 0.19547
NM_006947.4(SRP72):c.1087-172A>G rs17086853 0.19465
NM_006947.4(SRP72):c.*173T>C rs10051 0.19449
NM_006947.4(SRP72):c.109+232C>G rs66858948 0.18681
NM_006947.4(SRP72):c.611-202C>A rs1579019 0.13139
NM_006947.4(SRP72):c.1640+88A>G rs17086898 0.13135
NM_006947.4(SRP72):c.1678+67A>C rs11934479 0.13135
NM_006947.4(SRP72):c.1321-102C>G rs12643996 0.13103
NM_006947.4(SRP72):c.1086+59T>C rs11934636 0.13083
NM_006947.4(SRP72):c.958-139A>G rs6830145 0.12860
NM_006947.4(SRP72):c.610+332T>A rs4565139 0.10851
NM_006947.4(SRP72):c.1671A>G (p.Lys557=) rs34419325 0.08343
NM_006947.4(SRP72):c.1225-182C>T rs17086868 0.08068
NM_006947.4(SRP72):c.1321-163C>G rs12643989 0.08063
NM_006947.4(SRP72):c.825+204G>C rs17086830 0.08053
NM_006947.4(SRP72):c.643-224T>A rs201153427 0.07911
NM_006947.4(SRP72):c.643-225del rs368800329 0.07179
NM_006947.4(SRP72):c.1160-213A>G rs73240551 0.05525
NM_006947.4(SRP72):c.1224+289C>T rs17086860 0.04458
NM_006947.4(SRP72):c.610+328T>C rs111802596 0.04328
NM_006947.4(SRP72):c.643-293A>T rs74952490 0.03550
NM_006947.4(SRP72):c.1839-41G>A rs76774105 0.03136
NM_006947.4(SRP72):c.1503-292T>C rs17086893 0.03132
NM_006947.4(SRP72):c.610+139G>A rs41476944 0.02667
NM_006947.4(SRP72):c.1678+306C>G rs73167396 0.02297
NM_006947.4(SRP72):c.1410A>G (p.Leu470=) rs17086879 0.02284
NM_006947.4(SRP72):c.1679-136T>G rs59110249 0.02169
NM_006947.4(SRP72):c.610+147C>T rs6821240 0.02089
NM_006947.4(SRP72):c.109+71G>A rs6857233 0.02062
NM_006947.4(SRP72):c.*139G>A rs28438730 0.02050
NM_006947.4(SRP72):c.1838+251T>C rs41280353 0.01938
NM_006947.4(SRP72):c.1641-46A>C rs6834809 0.01465
NM_006947.4(SRP72):c.355-139T>C rs114820550 0.01231
NM_006947.4(SRP72):c.1159+276A>G rs113413912 0.01177
NM_006947.4(SRP72):c.768-20C>T rs116799047 0.01152
NM_006947.4(SRP72):c.1640+267A>G rs10428449 0.01078
NM_006947.4(SRP72):c.1641-78_1641-75del rs10572954 0.01074
NM_006947.4(SRP72):c.610+296G>A rs114974085 0.01073
NM_006947.4(SRP72):c.1502+220A>C rs41280349 0.00834
NM_006947.4(SRP72):c.1838+121T>C rs10020554 0.00780
NM_006947.4(SRP72):c.109+125A>G rs28718765 0.00746
NM_006947.4(SRP72):c.1838+19A>G rs10018091 0.00717
NM_006947.4(SRP72):c.957+123T>G rs140671379 0.00695
NM_006947.4(SRP72):c.1678+196C>T rs73818110 0.00685
NM_006947.4(SRP72):c.1380T>C (p.Tyr460=) rs73818109 0.00638
NM_006947.4(SRP72):c.1838+74G>A rs149142312 0.00557
NM_006947.4(SRP72):c.1224+276A>G rs116364781 0.00486
NM_006947.4(SRP72):c.1502+266C>G rs144034357 0.00486
NM_006947.4(SRP72):c.643-227T>C rs191010933 0.00483
NM_006947.4(SRP72):c.1160-179T>G rs182525674 0.00411
NM_006947.4(SRP72):c.686A>G (p.His229Arg) rs138986942 0.00369
NM_006947.4(SRP72):c.1640+6dup rs572508224 0.00334
NM_006947.4(SRP72):c.1839-45C>T rs17086912 0.00271
NM_006947.4(SRP72):c.58C>T (p.Arg20Trp) rs111673705 0.00260
NM_006947.4(SRP72):c.144G>T (p.Leu48=) rs112496764 0.00172
NM_006947.4(SRP72):c.1803G>A (p.Gly601=) rs143643243 0.00131
NM_006947.4(SRP72):c.2004A>G (p.Lys668=) rs148068843 0.00108
NM_006947.4(SRP72):c.1170T>C (p.Ser390=) rs143262707 0.00082
NM_006947.4(SRP72):c.1589T>C (p.Ile530Thr) rs192401229 0.00048
NM_006947.4(SRP72):c.406G>A (p.Val136Ile) rs145817936 0.00028
NM_006947.4(SRP72):c.1294G>A (p.Ala432Thr) rs201102960 0.00019
NM_006947.4(SRP72):c.622C>T (p.Arg208Cys) rs375436807 0.00013
NM_006947.4(SRP72):c.623G>A (p.Arg208His) rs369761160 0.00011
NM_006947.4(SRP72):c.110-5T>G rs186908289 0.00009
NM_006947.4(SRP72):c.1135A>G (p.Met379Val) rs201095666 0.00009
NM_006947.4(SRP72):c.191C>T (p.Ala64Val) rs141475605 0.00008
NM_006947.4(SRP72):c.1502+1G>A rs750937171 0.00007
NM_006947.4(SRP72):c.121A>C (p.Asn41His) rs200214809 0.00006
NM_006947.4(SRP72):c.527A>G (p.His176Arg) rs775983847 0.00006
NM_006947.4(SRP72):c.970C>T (p.Arg324Cys) rs367919002 0.00006
NM_006947.4(SRP72):c.971G>A (p.Arg324His) rs149517121 0.00006
NM_006947.4(SRP72):c.1384C>T (p.Arg462Trp) rs771523590 0.00005
NM_006947.4(SRP72):c.1399A>G (p.Ile467Val) rs139050510 0.00005
NM_006947.4(SRP72):c.1408C>T (p.Leu470=) rs377629543 0.00005
NM_006947.4(SRP72):c.1319A>G (p.Gln440Arg) rs200470119 0.00004
NM_006947.4(SRP72):c.1448C>A (p.Thr483Asn) rs768437750 0.00004
NM_006947.4(SRP72):c.1556A>T (p.Glu519Val) rs767910888 0.00004
NM_006947.4(SRP72):c.40C>T (p.Leu14=) rs779131373 0.00004
NM_006947.4(SRP72):c.1484A>G (p.Asp495Gly) rs376866344 0.00003
NM_006947.4(SRP72):c.1839G>T (p.Leu613=) rs184026875 0.00003
NM_006947.4(SRP72):c.1871C>T (p.Thr624Ile) rs797046009 0.00003
NM_006947.4(SRP72):c.371G>A (p.Arg124His) rs745506634 0.00003
NM_006947.4(SRP72):c.494T>C (p.Val165Ala) rs200520143 0.00003
NM_006947.4(SRP72):c.872C>T (p.Ala291Val) rs758054768 0.00003
NM_006947.4(SRP72):c.976A>G (p.Ile326Val) rs756869170 0.00003
NM_006947.4(SRP72):c.1049G>A (p.Arg350His) rs368765062 0.00002
NM_006947.4(SRP72):c.1460T>C (p.Leu487Pro) rs1328792939 0.00002
NM_006947.4(SRP72):c.149G>A (p.Cys50Tyr) rs773723388 0.00002
NM_006947.4(SRP72):c.1552G>A (p.Val518Ile) rs1245879506 0.00002
NM_006947.4(SRP72):c.1019C>T (p.Pro340Leu) rs144019924 0.00001
NM_006947.4(SRP72):c.1089A>G (p.Glu363=) rs1037303884 0.00001
NM_006947.4(SRP72):c.1385G>A (p.Arg462Gln) rs780508672 0.00001
NM_006947.4(SRP72):c.1452G>A (p.Leu484=) rs1487021292 0.00001
NM_006947.4(SRP72):c.151A>G (p.Lys51Glu) rs779302597 0.00001
NM_006947.4(SRP72):c.1523C>T (p.Ser508Leu) rs151333733 0.00001
NM_006947.4(SRP72):c.1536G>C (p.Met512Ile) rs150748877 0.00001
NM_006947.4(SRP72):c.1691A>C (p.Lys564Thr) rs1001767158 0.00001
NM_006947.4(SRP72):c.178A>G (p.Ser60Gly) rs1256878810 0.00001
NM_006947.4(SRP72):c.1838T>C (p.Leu613Pro) rs781585137 0.00001
NM_006947.4(SRP72):c.190G>C (p.Ala64Pro) rs1472680556 0.00001
NM_006947.4(SRP72):c.1930C>T (p.Pro644Ser) rs1417876848 0.00001
NM_006947.4(SRP72):c.206A>G (p.Asn69Ser) rs746409282 0.00001
NM_006947.4(SRP72):c.289G>A (p.Ala97Thr) rs1719989176 0.00001
NM_006947.4(SRP72):c.370C>T (p.Arg124Cys) rs780619103 0.00001
NM_006947.4(SRP72):c.409C>T (p.Arg137Ter) rs774306354 0.00001
NM_006947.4(SRP72):c.569G>T (p.Gly190Val) rs762089514 0.00001
NM_006947.4(SRP72):c.619C>T (p.Arg207Cys) rs921308577 0.00001
NM_006947.4(SRP72):c.646G>A (p.Gly216Arg) rs1234409512 0.00001
NM_006947.4(SRP72):c.696G>A (p.Met232Ile) rs1190712067 0.00001
NM_006947.4(SRP72):c.746A>G (p.Tyr249Cys) rs953480192 0.00001
NM_006947.4(SRP72):c.869A>G (p.Asn290Ser) rs747672714 0.00001
NM_006947.4(SRP72):c.941C>T (p.Ala314Val) rs1460929329 0.00001
NM_006947.4(SRP72):c.986G>A (p.Ser329Asn) rs750170143 0.00001
NM_006947.4(SRP72):c.992A>G (p.Gln331Arg) rs1029513210 0.00001
NM_006947.4(SRP72):c.1061A>T (p.His354Leu) rs2110123036
NM_006947.4(SRP72):c.1075G>A (p.Glu359Lys)
NM_006947.4(SRP72):c.1086G>C (p.Gln362His)
NM_006947.4(SRP72):c.109+202C>G rs12505749
NM_006947.4(SRP72):c.1091T>G (p.Phe364Cys) rs2545763203
NM_006947.4(SRP72):c.1120G>A (p.Glu374Lys) rs934210566
NM_006947.4(SRP72):c.1127A>T (p.Lys376Met)
NM_006947.4(SRP72):c.1160-15_1160-12del rs1296916909
NM_006947.4(SRP72):c.1175C>T (p.Ala392Val)
NM_006947.4(SRP72):c.1184T>A (p.Ile395Lys) rs2545764551
NM_006947.4(SRP72):c.1225G>A (p.Val409Ile)
NM_006947.4(SRP72):c.1253A>G (p.His418Arg) rs2110126368
NM_006947.4(SRP72):c.125A>G (p.Lys42Arg)
NM_006947.4(SRP72):c.1297A>G (p.Ile433Val) rs2545766065
NM_006947.4(SRP72):c.1321-345G>T rs12649799
NM_006947.4(SRP72):c.1330_1332del (p.Pro444del) rs751717848
NM_006947.4(SRP72):c.133G>T (p.Val45Leu) rs201940585
NM_006947.4(SRP72):c.1376A>T (p.Lys459Ile) rs2545767424
NM_006947.4(SRP72):c.1388A>C (p.Lys463Thr) rs2110127031
NM_006947.4(SRP72):c.143T>G (p.Leu48Arg) rs1719886573
NM_006947.4(SRP72):c.1531A>T (p.Ser511Cys) rs764251568
NM_006947.4(SRP72):c.1591C>T (p.Arg531Trp)
NM_006947.4(SRP72):c.1598A>C (p.Lys533Thr) rs200396390
NM_006947.4(SRP72):c.1659G>C (p.Lys553Asn) rs2545772622
NM_006947.4(SRP72):c.1717G>C (p.Asp573His) rs1721229379
NM_006947.4(SRP72):c.1718A>G (p.Asp573Gly)
NM_006947.4(SRP72):c.1739T>A (p.Met580Lys)
NM_006947.4(SRP72):c.1760G>A (p.Arg587Gln)
NM_006947.4(SRP72):c.1763G>C (p.Gly588Ala)
NM_006947.4(SRP72):c.1788T>A (p.Asp596Glu)
NM_006947.4(SRP72):c.1807C>G (p.Gln603Glu)
NM_006947.4(SRP72):c.1838+265_1838+266insGT rs77703208
NM_006947.4(SRP72):c.1838+281dup rs201988695
NM_006947.4(SRP72):c.1839-260_1839-259del rs143183363
NM_006947.4(SRP72):c.1921A>G (p.Ile641Val) rs760191431
NM_006947.4(SRP72):c.1960G>C (p.Ala654Pro)
NM_006947.4(SRP72):c.230+122dup rs33985780
NM_006947.4(SRP72):c.230+128dup rs142017318
NM_006947.4(SRP72):c.230+215_230+216del rs150238707
NM_006947.4(SRP72):c.230+215_230+216dup rs150238707
NM_006947.4(SRP72):c.230+216dup rs150238707
NM_006947.4(SRP72):c.230+307_230+310del rs145835499
NM_006947.4(SRP72):c.337G>A (p.Glu113Lys)
NM_006947.4(SRP72):c.347G>A (p.Gly116Glu)
NM_006947.4(SRP72):c.355-279dup rs201143094
NM_006947.4(SRP72):c.37G>A (p.Ala13Thr) rs781230154
NM_006947.4(SRP72):c.433G>C (p.Glu145Gln) rs1057524146
NM_006947.4(SRP72):c.435G>C (p.Glu145Asp)
NM_006947.4(SRP72):c.484G>A (p.Glu162Lys)
NM_006947.4(SRP72):c.491del (p.Val164fs) rs2545749506
NM_006947.4(SRP72):c.496C>T (p.Pro166Ser)
NM_006947.4(SRP72):c.509G>A (p.Gly170Asp) rs1419324011
NM_006947.4(SRP72):c.521G>A (p.Gly174Asp) rs1720115376
NM_006947.4(SRP72):c.592A>G (p.Ile198Val)
NM_006947.4(SRP72):c.605C>G (p.Ala202Gly)
NM_006947.4(SRP72):c.610+163del rs112716931
NM_006947.4(SRP72):c.610+163dup rs112716931
NM_006947.4(SRP72):c.611-295_611-291del rs145873287
NM_006947.4(SRP72):c.732G>C (p.Glu244Asp)
NM_006947.4(SRP72):c.767+1G>A rs2545754987
NM_006947.4(SRP72):c.768-9T>G
NM_006947.4(SRP72):c.791C>G (p.Ala264Gly)
NM_006947.4(SRP72):c.796A>C (p.Ile266Leu)
NM_006947.4(SRP72):c.811A>G (p.Ile271Val)
NM_006947.4(SRP72):c.85C>T (p.Arg29Cys) rs1342038011
NM_006947.4(SRP72):c.943A>G (p.Met315Val) rs2545760369
NM_006947.4(SRP72):c.949A>G (p.Thr317Ala) rs187131645
NM_006947.4(SRP72):c.971G>T (p.Arg324Leu)

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