ClinVar Miner

List of variants reported as benign for FG syndrome 1 by Invitae

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 173
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HGVS dbSNP gnomAD frequency
NM_005120.3(MED12):c.736-8A>C rs62609586 0.22423
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619 0.21992
NM_005120.3(MED12):c.2259G>A (p.Arg753=) rs61752446 0.01916
NM_005120.3(MED12):c.5535C>T (p.Asn1845=) rs34784349 0.01002
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser) rs147354926 0.00685
NM_005120.3(MED12):c.2886C>T (p.Ser962=) rs34761462 0.00604
NM_005120.3(MED12):c.1248+15T>C rs187377817 0.00307
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660 0.00225
NM_005120.3(MED12):c.1386G>T (p.Val462=) rs186153976 0.00216
NM_005120.3(MED12):c.3699G>A (p.Ala1233=) rs184162709 0.00133
NM_005120.3(MED12):c.5748+16G>T rs199760183 0.00122
NM_005120.3(MED12):c.5400+6C>T rs192656109 0.00121
NM_005120.3(MED12):c.2981+13G>A rs73214870 0.00105
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437 0.00104
NM_005120.3(MED12):c.438A>G (p.Leu146=) rs35068602 0.00100
NM_005120.3(MED12):c.2613G>A (p.Gln871=) rs372344160 0.00047
NM_005120.3(MED12):c.1695T>A (p.Ile565=) rs138984044 0.00039
NM_005120.3(MED12):c.381G>A (p.Thr127=) rs202125318 0.00039
NM_005120.3(MED12):c.5400+7G>A rs201254124 0.00038
NM_005120.3(MED12):c.397-12A>T rs192515277 0.00036
NM_005120.3(MED12):c.4528-19T>C rs370859385 0.00026
NM_005120.3(MED12):c.736-14C>G rs373707149 0.00025
NM_005120.3(MED12):c.2055+19G>A rs373450304 0.00020
NM_005120.3(MED12):c.934G>C (p.Val312Leu) rs377403264 0.00020
NM_005120.3(MED12):c.554-16T>A rs760845015 0.00015
NM_005120.3(MED12):c.1101+18C>T rs200510424 0.00013
NM_005120.3(MED12):c.5805C>T (p.Ser1935=) rs201608537 0.00013
NM_005120.3(MED12):c.4488C>T (p.Arg1496=) rs531754497 0.00012
NM_005120.3(MED12):c.321A>C (p.Ala107=) rs748627661 0.00010
NM_005120.3(MED12):c.3357C>T (p.Val1119=) rs773679943 0.00010
NM_005120.3(MED12):c.3942T>C (p.Ser1314=) rs3810670 0.00010
NM_005120.3(MED12):c.6201A>G (p.Gln2067=) rs375793297 0.00010
NM_005120.3(MED12):c.2721G>A (p.Leu907=) rs757010467 0.00009
NM_005120.3(MED12):c.4115A>G (p.Asn1372Ser) rs202009066 0.00009
NM_005120.3(MED12):c.5103T>C (p.Ser1701=) rs762801267 0.00009
NM_005120.3(MED12):c.5267T>C (p.Leu1756Pro) rs201843482 0.00009
NM_005120.3(MED12):c.2413A>C (p.Thr805Pro) rs747413033 0.00008
NM_005120.3(MED12):c.4425A>G (p.Leu1475=) rs370211858 0.00008
NM_005120.3(MED12):c.4851G>A (p.Ala1617=) rs377210068 0.00008
NM_005120.3(MED12):c.1167G>A (p.Lys389=) rs374324656 0.00007
NM_005120.3(MED12):c.3111G>A (p.Thr1037=) rs185658730 0.00007
NM_005120.3(MED12):c.4359G>A (p.Lys1453=) rs766087487 0.00007
NM_005120.3(MED12):c.4950G>A (p.Thr1650=) rs756839501 0.00007
NM_005120.3(MED12):c.5593A>G (p.Met1865Val) rs587778438 0.00007
NM_005120.3(MED12):c.5712G>A (p.Ala1904=) rs189962028 0.00007
NM_005120.3(MED12):c.5205C>T (p.Arg1735=) rs747836622 0.00006
NM_005120.3(MED12):c.568A>G (p.Ile190Val) rs374780236 0.00006
NM_005120.3(MED12):c.6097A>G (p.Met2033Val) rs372606012 0.00006
NM_005120.3(MED12):c.2685+17G>T rs767584131 0.00005
NM_005120.3(MED12):c.4880G>A (p.Arg1627His) rs759857680 0.00005
NM_005120.3(MED12):c.5109C>T (p.Gly1703=) rs781134410 0.00005
NM_005120.3(MED12):c.5490A>C (p.Thr1830=) rs762466624 0.00005
NM_005120.3(MED12):c.6003G>A (p.Gln2001=) rs1226474526 0.00005
NM_005120.3(MED12):c.6072A>T (p.Thr2024=) rs200692655 0.00005
NM_005120.3(MED12):c.6139A>G (p.Ile2047Val) rs748668603 0.00005
NM_005120.3(MED12):c.906A>G (p.Thr302=) rs1458066906 0.00005
NM_005120.3(MED12):c.1348+18G>A rs776024292 0.00004
NM_005120.3(MED12):c.1975-5C>T rs200891932 0.00004
NM_005120.3(MED12):c.2571G>A (p.Thr857=) rs368090262 0.00004
NM_005120.3(MED12):c.4863+15C>T rs778076528 0.00004
NM_005120.3(MED12):c.5190G>C (p.Leu1730=) rs753355369 0.00004
NM_005120.3(MED12):c.5775A>G (p.Ser1925=) rs376753995 0.00004
NM_005120.3(MED12):c.6112G>A (p.Val2038Ile) rs762612521 0.00004
NM_005120.3(MED12):c.1794G>A (p.Leu598=) rs776762599 0.00003
NM_005120.3(MED12):c.183C>T (p.Asn61=) rs770411750 0.00003
NM_005120.3(MED12):c.2484T>C (p.Asp828=) rs781733323 0.00003
NM_005120.3(MED12):c.2748C>A (p.Gly916=) rs768686458 0.00003
NM_005120.3(MED12):c.2849+14C>T rs398124196 0.00003
NM_005120.3(MED12):c.3012C>T (p.Ile1004=) rs775829185 0.00003
NM_005120.3(MED12):c.3381G>T (p.Ser1127=) rs369946933 0.00003
NM_005120.3(MED12):c.5316G>A (p.Pro1772=) rs398124199 0.00003
NM_005120.3(MED12):c.5836C>T (p.Pro1946Ser) rs1195178209 0.00003
NM_005120.3(MED12):c.1031C>A (p.Thr344Asn) rs773615925 0.00002
NM_005120.3(MED12):c.1170C>T (p.Thr390=) rs772236514 0.00002
NM_005120.3(MED12):c.1332C>T (p.Cys444=) rs746205041 0.00002
NM_005120.3(MED12):c.1994C>G (p.Ser665Cys) rs764981858 0.00002
NM_005120.3(MED12):c.2202C>T (p.Tyr734=) rs1366328614 0.00002
NM_005120.3(MED12):c.2308G>A (p.Ala770Thr) rs199860580 0.00002
NM_005120.3(MED12):c.2686-15C>T rs200842589 0.00002
NM_005120.3(MED12):c.3355-16C>G rs201933970 0.00002
NM_005120.3(MED12):c.3785G>A (p.Arg1262Lys) rs202120461 0.00002
NM_005120.3(MED12):c.380C>T (p.Thr127Met) rs775072642 0.00002
NM_005120.3(MED12):c.4077T>G (p.Ser1359=) rs902073429 0.00002
NM_005120.3(MED12):c.4161C>T (p.Ile1387=) rs776947543 0.00002
NM_005120.3(MED12):c.4238C>A (p.Thr1413Asn) rs759532414 0.00002
NM_005120.3(MED12):c.4253+16G>A rs185066241 0.00002
NM_005120.3(MED12):c.4299T>C (p.Ala1433=) rs763359998 0.00002
NM_005120.3(MED12):c.4380T>C (p.Ser1460=) rs377119772 0.00002
NM_005120.3(MED12):c.439G>A (p.Ala147Thr) rs748453083 0.00002
NM_005120.3(MED12):c.4863+16G>A rs745396813 0.00002
NM_005120.3(MED12):c.5561G>A (p.Arg1854His) rs759125296 0.00002
NM_005120.3(MED12):c.981G>A (p.Thr327=) rs769757456 0.00002
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly) rs752300879 0.00001
NM_005120.3(MED12):c.1140C>T (p.His380=) rs753714929 0.00001
NM_005120.3(MED12):c.1485+5G>A rs1006276729 0.00001
NM_005120.3(MED12):c.1974+15C>T rs186876895 0.00001
NM_005120.3(MED12):c.205-20G>A rs780403920 0.00001
NM_005120.3(MED12):c.2194G>A (p.Val732Met) rs750304793 0.00001
NM_005120.3(MED12):c.2203G>A (p.Ala735Thr) rs756039521 0.00001
NM_005120.3(MED12):c.2265C>T (p.Val755=) rs750186446 0.00001
NM_005120.3(MED12):c.2280G>A (p.Val760=) rs753948557 0.00001
NM_005120.3(MED12):c.2422+16C>A rs774516868 0.00001
NM_005120.3(MED12):c.3609C>T (p.Cys1203=) rs751742488 0.00001
NM_005120.3(MED12):c.3797G>A (p.Arg1266His) rs587780391 0.00001
NM_005120.3(MED12):c.4041T>C (p.Ile1347=) rs769884032 0.00001
NM_005120.3(MED12):c.5360C>G (p.Thr1787Ser) rs1444442163 0.00001
NM_005120.3(MED12):c.5418G>A (p.Pro1806=) rs770957462 0.00001
NM_005120.3(MED12):c.5659G>A (p.Gly1887Ser) rs758621985 0.00001
NM_005120.3(MED12):c.5768G>T (p.Gly1923Val) rs1046757174 0.00001
NM_005120.3(MED12):c.5809G>A (p.Gly1937Ser) rs781638379 0.00001
NM_005120.3(MED12):c.6037A>C (p.Thr2013Pro) rs777453338 0.00001
NM_005120.3(MED12):c.1011A>C (p.Pro337=)
NM_005120.3(MED12):c.1101+14G>A
NM_005120.3(MED12):c.1113G>A (p.Leu371=) rs780470012
NM_005120.3(MED12):c.1203G>A (p.Pro401=) rs368546216
NM_005120.3(MED12):c.1265G>A (p.Arg422Gln)
NM_005120.3(MED12):c.1281G>A (p.Gln427=)
NM_005120.3(MED12):c.1485+6C>T rs565198403
NM_005120.3(MED12):c.1639G>A (p.Ala547Thr) rs370812643
NM_005120.3(MED12):c.171C>T (p.Gly57=)
NM_005120.3(MED12):c.204+12_204+13del rs200301833
NM_005120.3(MED12):c.2271G>A (p.Leu757=) rs756091104
NM_005120.3(MED12):c.2372-9C>T
NM_005120.3(MED12):c.2423-6C>T
NM_005120.3(MED12):c.2568C>T (p.Ile856=)
NM_005120.3(MED12):c.2685+20G>A
NM_005120.3(MED12):c.2727C>T (p.Leu909=)
NM_005120.3(MED12):c.2778C>T (p.Ile926=)
NM_005120.3(MED12):c.3009C>G (p.Thr1003=)
NM_005120.3(MED12):c.3181G>A (p.Val1061Ile)
NM_005120.3(MED12):c.3355-11T>C
NM_005120.3(MED12):c.3355-14G>T
NM_005120.3(MED12):c.3355-8dup rs750373111
NM_005120.3(MED12):c.3426C>T (p.Leu1142=)
NM_005120.3(MED12):c.3483T>C (p.Ser1161=)
NM_005120.3(MED12):c.3567G>T (p.Gln1189His) rs2147804945
NM_005120.3(MED12):c.3691+9dup rs966516434
NM_005120.3(MED12):c.369C>T (p.Thr123=) rs769484204
NM_005120.3(MED12):c.3736A>G (p.Thr1246Ala)
NM_005120.3(MED12):c.3795C>T (p.Gly1265=)
NM_005120.3(MED12):c.3990G>C (p.Leu1330=)
NM_005120.3(MED12):c.4449G>A (p.Ser1483=)
NM_005120.3(MED12):c.4527+18A>G
NM_005120.3(MED12):c.4566T>C (p.Asp1522=)
NM_005120.3(MED12):c.4727+17C>T
NM_005120.3(MED12):c.4806G>A (p.Ser1602=) rs755218771
NM_005120.3(MED12):c.5025+20C>T
NM_005120.3(MED12):c.5175C>T (p.Leu1725=)
NM_005120.3(MED12):c.5303A>G (p.Lys1768Arg) rs1295791827
NM_005120.3(MED12):c.5376C>T (p.Arg1792=)
NM_005120.3(MED12):c.5405A>G (p.Tyr1802Cys)
NM_005120.3(MED12):c.5511C>T (p.Gly1837=)
NM_005120.3(MED12):c.5749-11del rs2147830057
NM_005120.3(MED12):c.5749-15C>T
NM_005120.3(MED12):c.5827-15C>T
NM_005120.3(MED12):c.5873G>C (p.Gly1958Ala)
NM_005120.3(MED12):c.6060A>T (p.Thr2020=)
NM_005120.3(MED12):c.6075C>A (p.Pro2025=)
NM_005120.3(MED12):c.6128G>A (p.Arg2043His)
NM_005120.3(MED12):c.6150GCA[3] (p.Gln2074_Gln2076del)
NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup) rs757160341
NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup) rs757160341
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005120.3(MED12):c.6408+22del
NM_005120.3(MED12):c.6411C>T (p.Phe2137=)
NM_005120.3(MED12):c.6426T>G (p.Leu2142=)
NM_005120.3(MED12):c.6491-20T>C
NM_005120.3(MED12):c.751A>C (p.Arg251=)
NM_005120.3(MED12):c.796C>T (p.Arg266Cys)
NM_005120.3(MED12):c.846+6dup
NM_005120.3(MED12):c.954T>C (p.His318=)
NM_005120.3(MED12):c.958A>G (p.Ile320Val) rs781192327
NM_005120.3(MED12):c.958A>T (p.Ile320Leu)

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