ClinVar Miner

List of variants in gene FAM111A studied for not provided

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Gene type:
ClinVar version:
Total variants: 255
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HGVS dbSNP gnomAD frequency
NM_001312909.2(FAM111A):c.672A>G (p.Ala224=) rs10896928 0.24611
NM_001312909.2(FAM111A):c.-76-232A>G rs7933787 0.23706
NM_001312909.2(FAM111A):c.82-129A>T rs60883299 0.04731
NM_001312909.2(FAM111A):c.81+169A>G rs11229847 0.04724
NM_001312909.2(FAM111A):c.81+68A>G rs11229845 0.04724
NM_001312909.2(FAM111A):c.81+269G>A rs79009474 0.01841
NM_001312909.2(FAM111A):c.1207A>G (p.Ile403Val) rs73491319 0.01474
NM_001312909.2(FAM111A):c.*186A>G rs143550768 0.01261
NM_001312909.2(FAM111A):c.310T>A (p.Leu104Ile) rs74658848 0.01021
NM_001312909.2(FAM111A):c.1299A>G (p.Ile433Met) rs114634830 0.00586
NM_001312909.2(FAM111A):c.-76-90C>T rs184467419 0.00511
NM_001312909.2(FAM111A):c.782_791dup (p.Phe264fs) rs533676902 0.00478
NM_001312909.2(FAM111A):c.291A>G (p.Thr97=) rs79022489 0.00451
NM_001312909.2(FAM111A):c.580T>A (p.Cys194Ser) rs148451410 0.00296
NM_001312909.2(FAM111A):c.828A>G (p.Ala276=) rs149943652 0.00141
NM_001312909.2(FAM111A):c.1296G>A (p.Glu432=) rs147219534 0.00133
NM_001312909.2(FAM111A):c.1758G>A (p.Lys586=) rs144353692 0.00128
NM_001312909.2(FAM111A):c.738T>C (p.Asn246=) rs144151093 0.00084
NM_001312909.2(FAM111A):c.309C>T (p.Ser103=) rs142752482 0.00083
NM_001312909.2(FAM111A):c.316A>G (p.Met106Val) rs368439990 0.00082
NM_001312909.2(FAM111A):c.1588A>G (p.Ile530Val) rs117988338 0.00052
NM_001312909.2(FAM111A):c.1240T>C (p.Tyr414His) rs192418278 0.00031
NM_001312909.2(FAM111A):c.107G>A (p.Cys36Tyr) rs143326650 0.00024
NM_001312909.2(FAM111A):c.386G>A (p.Arg129His) rs150761330 0.00015
NM_001312909.2(FAM111A):c.1708A>T (p.Ser570Cys) rs201874283 0.00009
NM_001312909.2(FAM111A):c.531A>G (p.Ala177=) rs185713600 0.00004
NM_001312909.2(FAM111A):c.1714_1716del (p.Ile572del) rs779963813 0.00003
NM_001312909.2(FAM111A):c.888C>T (p.Ile296=) rs1038931608 0.00002
NM_001312909.2(FAM111A):c.1473T>G (p.Gly491=) rs1335724786 0.00001
NM_001312909.2(FAM111A):c.1692C>A (p.Tyr564Ter) rs1400352534 0.00001
NM_001312909.2(FAM111A):c.1788A>G (p.Val596=) rs1245286010 0.00001
NM_001312909.2(FAM111A):c.25C>T (p.Arg9Trp) rs758432983 0.00001
NM_001312909.2(FAM111A):c.507C>T (p.His169=) rs555600445 0.00001
NM_001312909.2(FAM111A):c.563C>G (p.Ala188Gly) rs574553791 0.00001
NM_001312909.2(FAM111A):c.678C>T (p.Cys226=) rs1481491759 0.00001
NM_001312909.2(FAM111A):c.*210_*215dup rs878948228
NM_001312909.2(FAM111A):c.*215del rs878948228
NM_001312909.2(FAM111A):c.*215dup rs878948228
NM_001312909.2(FAM111A):c.1050T>G (p.Leu350=)
NM_001312909.2(FAM111A):c.1054C>T (p.Arg352Cys)
NM_001312909.2(FAM111A):c.1068del (p.Val357fs)
NM_001312909.2(FAM111A):c.1069G>A (p.Val357Ile)
NM_001312909.2(FAM111A):c.1084T>C (p.Trp362Arg)
NM_001312909.2(FAM111A):c.1100C>T (p.Thr367Met)
NM_001312909.2(FAM111A):c.1107C>T (p.Tyr369=)
NM_001312909.2(FAM111A):c.1111A>G (p.Thr371Ala) rs143839121
NM_001312909.2(FAM111A):c.1111A>T (p.Thr371Ser) rs143839121
NM_001312909.2(FAM111A):c.1118T>C (p.Phe373Ser)
NM_001312909.2(FAM111A):c.1131A>G (p.Gly377=)
NM_001312909.2(FAM111A):c.1145C>T (p.Thr382Ile)
NM_001312909.2(FAM111A):c.1150C>T (p.Arg384Trp)
NM_001312909.2(FAM111A):c.1153C>T (p.His385Tyr)
NM_001312909.2(FAM111A):c.1154del (p.His385fs)
NM_001312909.2(FAM111A):c.1160T>C (p.Ile387Thr)
NM_001312909.2(FAM111A):c.1163_1166del (p.Asp388fs)
NM_001312909.2(FAM111A):c.1167C>A (p.Ser389Arg)
NM_001312909.2(FAM111A):c.1175G>C (p.Gly392Ala)
NM_001312909.2(FAM111A):c.1179C>G (p.Asp393Glu) rs749523037
NM_001312909.2(FAM111A):c.1179C>T (p.Asp393=)
NM_001312909.2(FAM111A):c.1180G>A (p.Gly394Arg)
NM_001312909.2(FAM111A):c.1185A>G (p.Ile395Met) rs2135485673
NM_001312909.2(FAM111A):c.1193G>A (p.Ser398Asn)
NM_001312909.2(FAM111A):c.1211T>C (p.Ile404Thr)
NM_001312909.2(FAM111A):c.1237G>A (p.Gly413Ser)
NM_001312909.2(FAM111A):c.1238G>T (p.Gly413Val)
NM_001312909.2(FAM111A):c.1241A>G (p.Tyr414Cys)
NM_001312909.2(FAM111A):c.1241A>T (p.Tyr414Phe)
NM_001312909.2(FAM111A):c.1251A>G (p.Leu417=)
NM_001312909.2(FAM111A):c.1257C>T (p.Asp419=)
NM_001312909.2(FAM111A):c.125G>T (p.Arg42Met)
NM_001312909.2(FAM111A):c.126G>A (p.Arg42=) rs756613145
NM_001312909.2(FAM111A):c.1272C>T (p.Tyr424=)
NM_001312909.2(FAM111A):c.1285C>A (p.Pro429Thr) rs149508004
NM_001312909.2(FAM111A):c.1285C>T (p.Pro429Ser)
NM_001312909.2(FAM111A):c.1286C>A (p.Pro429His) rs771954122
NM_001312909.2(FAM111A):c.1290G>T (p.Trp430Cys)
NM_001312909.2(FAM111A):c.133T>A (p.Ser45Thr)
NM_001312909.2(FAM111A):c.133T>C (p.Ser45Pro)
NM_001312909.2(FAM111A):c.1340A>G (p.Glu447Gly) rs2135487006
NM_001312909.2(FAM111A):c.1350A>G (p.Gln450=)
NM_001312909.2(FAM111A):c.1351C>G (p.Gln451Glu) rs116918730
NM_001312909.2(FAM111A):c.1361T>C (p.Met454Thr)
NM_001312909.2(FAM111A):c.1385C>G (p.Pro462Arg)
NM_001312909.2(FAM111A):c.1392A>C (p.Pro464=)
NM_001312909.2(FAM111A):c.1396A>T (p.Ser466Cys)
NM_001312909.2(FAM111A):c.1406T>G (p.Ile469Arg)
NM_001312909.2(FAM111A):c.1408C>A (p.His470Asn)
NM_001312909.2(FAM111A):c.140G>A (p.Gly47Glu)
NM_001312909.2(FAM111A):c.1415T>C (p.Ile472Thr)
NM_001312909.2(FAM111A):c.1419C>T (p.Gly473=) rs1861917678
NM_001312909.2(FAM111A):c.1423C>T (p.Pro475Ser)
NM_001312909.2(FAM111A):c.1434A>G (p.Glu478=)
NM_001312909.2(FAM111A):c.1438_1440del (p.Lys480del)
NM_001312909.2(FAM111A):c.1439del (p.Lys480fs)
NM_001312909.2(FAM111A):c.1442A>T (p.Gln481Leu)
NM_001312909.2(FAM111A):c.1454G>C (p.Cys485Ser) rs2135487872
NM_001312909.2(FAM111A):c.1462A>T (p.Ile488Phe)
NM_001312909.2(FAM111A):c.1463T>C (p.Ile488Thr)
NM_001312909.2(FAM111A):c.1465C>G (p.Pro489Ala)
NM_001312909.2(FAM111A):c.1465C>T (p.Pro489Ser)
NM_001312909.2(FAM111A):c.1467T>G (p.Pro489=)
NM_001312909.2(FAM111A):c.1477C>T (p.Arg493Ter) rs761191576
NM_001312909.2(FAM111A):c.1478G>A (p.Arg493Gln)
NM_001312909.2(FAM111A):c.1506G>A (p.Gln502=)
NM_001312909.2(FAM111A):c.1510A>T (p.Lys504Ter)
NM_001312909.2(FAM111A):c.1515A>T (p.Lys505Asn)
NM_001312909.2(FAM111A):c.1515dup (p.Ala506fs)
NM_001312909.2(FAM111A):c.1516G>A (p.Ala506Thr)
NM_001312909.2(FAM111A):c.1520A>G (p.Glu507Gly)
NM_001312909.2(FAM111A):c.1536C>A (p.Val512=)
NM_001312909.2(FAM111A):c.1564A>G (p.Lys522Glu)
NM_001312909.2(FAM111A):c.1568T>G (p.Ile523Arg)
NM_001312909.2(FAM111A):c.1570G>A (p.Val524Ile)
NM_001312909.2(FAM111A):c.1579C>A (p.Pro527Thr) rs587777015
NM_001312909.2(FAM111A):c.1592C>T (p.Thr531Ile)
NM_001312909.2(FAM111A):c.1595A>C (p.Tyr532Ser)
NM_001312909.2(FAM111A):c.1597G>T (p.Asp533Tyr)
NM_001312909.2(FAM111A):c.15G>A (p.Lys5=)
NM_001312909.2(FAM111A):c.1600A>G (p.Thr534Ala)
NM_001312909.2(FAM111A):c.1608T>A (p.Phe536Leu)
NM_001312909.2(FAM111A):c.1623C>A (p.Ser541=)
NM_001312909.2(FAM111A):c.1623C>T (p.Ser541=)
NM_001312909.2(FAM111A):c.1624G>A (p.Gly542Ser)
NM_001312909.2(FAM111A):c.1625G>A (p.Gly542Asp)
NM_001312909.2(FAM111A):c.1629C>T (p.Ser543=)
NM_001312909.2(FAM111A):c.1631del (p.Pro544fs)
NM_001312909.2(FAM111A):c.1635G>A (p.Val545=)
NM_001312909.2(FAM111A):c.1639G>T (p.Asp547Tyr)
NM_001312909.2(FAM111A):c.1653A>G (p.Ser551=)
NM_001312909.2(FAM111A):c.1656G>C (p.Leu552Phe)
NM_001312909.2(FAM111A):c.1664T>C (p.Met555Thr)
NM_001312909.2(FAM111A):c.166C>G (p.Gln56Glu)
NM_001312909.2(FAM111A):c.1670C>G (p.Ala557Gly)
NM_001312909.2(FAM111A):c.1676G>A (p.Gly559Asp)
NM_001312909.2(FAM111A):c.167A>G (p.Gln56Arg)
NM_001312909.2(FAM111A):c.1685A>C (p.Tyr562Ser) rs2135489647
NM_001312909.2(FAM111A):c.1697del (p.Asn566fs) rs1555019508
NM_001312909.2(FAM111A):c.169G>A (p.Ala57Thr) rs2135477077
NM_001312909.2(FAM111A):c.1705C>T (p.Arg569Cys)
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His) rs587777011
NM_001312909.2(FAM111A):c.1715T>C (p.Ile572Thr)
NM_001312909.2(FAM111A):c.1725C>G (p.Gly575=)
NM_001312909.2(FAM111A):c.1732A>G (p.Met578Val)
NM_001312909.2(FAM111A):c.1738T>C (p.Ser580Pro)
NM_001312909.2(FAM111A):c.1741A>G (p.Ile581Val)
NM_001312909.2(FAM111A):c.1763G>T (p.Arg588Ile)
NM_001312909.2(FAM111A):c.1774T>C (p.Trp592Arg) rs146642664
NM_001312909.2(FAM111A):c.1782A>G (p.Glu594=)
NM_001312909.2(FAM111A):c.1786G>T (p.Val596Leu)
NM_001312909.2(FAM111A):c.1796A>G (p.Asn599Ser)
NM_001312909.2(FAM111A):c.1806T>G (p.Asp602Glu)
NM_001312909.2(FAM111A):c.1824T>G (p.Asp608Glu)
NM_001312909.2(FAM111A):c.1827G>A (p.Glu609=)
NM_001312909.2(FAM111A):c.187C>T (p.Pro63Ser)
NM_001312909.2(FAM111A):c.192G>A (p.Lys64=)
NM_001312909.2(FAM111A):c.212C>A (p.Thr71Asn)
NM_001312909.2(FAM111A):c.215T>C (p.Met72Thr)
NM_001312909.2(FAM111A):c.228G>A (p.Arg76=)
NM_001312909.2(FAM111A):c.228del (p.Thr77fs) rs1282680056
NM_001312909.2(FAM111A):c.234A>G (p.Ile78Met) rs1565203934
NM_001312909.2(FAM111A):c.235T>A (p.Tyr79Asn)
NM_001312909.2(FAM111A):c.239T>C (p.Val80Ala)
NM_001312909.2(FAM111A):c.244T>A (p.Leu82Met)
NM_001312909.2(FAM111A):c.257A>G (p.His86Arg)
NM_001312909.2(FAM111A):c.27G>A (p.Arg9=)
NM_001312909.2(FAM111A):c.281_290del (p.Leu94fs) rs759624749
NM_001312909.2(FAM111A):c.282T>A (p.Leu94=)
NM_001312909.2(FAM111A):c.286C>G (p.Leu96Val) rs1590952177
NM_001312909.2(FAM111A):c.293A>G (p.His98Arg)
NM_001312909.2(FAM111A):c.30G>A (p.Lys10=)
NM_001312909.2(FAM111A):c.314A>T (p.Tyr105Phe)
NM_001312909.2(FAM111A):c.316A>T (p.Met106Leu)
NM_001312909.2(FAM111A):c.326A>G (p.Asn109Ser)
NM_001312909.2(FAM111A):c.353T>C (p.Ile118Thr)
NM_001312909.2(FAM111A):c.353T>G (p.Ile118Arg)
NM_001312909.2(FAM111A):c.353_356del (p.Ile118fs)
NM_001312909.2(FAM111A):c.354A>G (p.Ile118Met)
NM_001312909.2(FAM111A):c.364C>T (p.Gln122Ter)
NM_001312909.2(FAM111A):c.369C>T (p.Gly123=)
NM_001312909.2(FAM111A):c.377T>C (p.Met126Thr)
NM_001312909.2(FAM111A):c.378G>T (p.Met126Ile)
NM_001312909.2(FAM111A):c.381T>C (p.Leu127=)
NM_001312909.2(FAM111A):c.385C>T (p.Arg129Cys)
NM_001312909.2(FAM111A):c.398G>A (p.Gly133Glu)
NM_001312909.2(FAM111A):c.401T>G (p.Ile134Ser)
NM_001312909.2(FAM111A):c.412A>G (p.Ile138Val)
NM_001312909.2(FAM111A):c.426G>T (p.Met142Ile)
NM_001312909.2(FAM111A):c.427C>T (p.Pro143Ser)
NM_001312909.2(FAM111A):c.442C>T (p.Pro148Ser)
NM_001312909.2(FAM111A):c.452G>T (p.Gly151Val)
NM_001312909.2(FAM111A):c.482A>G (p.Lys161Arg)
NM_001312909.2(FAM111A):c.484A>G (p.Ser162Gly)
NM_001312909.2(FAM111A):c.486_489del (p.Lys163fs) rs757690219
NM_001312909.2(FAM111A):c.495G>A (p.Lys165=)
NM_001312909.2(FAM111A):c.500A>T (p.Asp167Val)
NM_001312909.2(FAM111A):c.519G>A (p.Arg173=)
NM_001312909.2(FAM111A):c.526A>G (p.Lys176Glu)
NM_001312909.2(FAM111A):c.529G>A (p.Ala177Thr)
NM_001312909.2(FAM111A):c.532T>C (p.Ser178Pro)
NM_001312909.2(FAM111A):c.534G>A (p.Ser178=)
NM_001312909.2(FAM111A):c.534G>T (p.Ser178=)
NM_001312909.2(FAM111A):c.539A>C (p.Glu180Ala)
NM_001312909.2(FAM111A):c.548A>G (p.Lys183Arg)
NM_001312909.2(FAM111A):c.561T>C (p.His187=)
NM_001312909.2(FAM111A):c.564A>G (p.Ala188=)
NM_001312909.2(FAM111A):c.575G>T (p.Gly192Val)
NM_001312909.2(FAM111A):c.578A>G (p.Lys193Arg)
NM_001312909.2(FAM111A):c.602G>A (p.Cys201Tyr)
NM_001312909.2(FAM111A):c.603T>A (p.Cys201Ter)
NM_001312909.2(FAM111A):c.604G>A (p.Gly202Arg)
NM_001312909.2(FAM111A):c.609G>T (p.Lys203Asn)
NM_001312909.2(FAM111A):c.624G>A (p.Gly208=)
NM_001312909.2(FAM111A):c.625C>T (p.Arg209Cys)
NM_001312909.2(FAM111A):c.626G>A (p.Arg209His)
NM_001312909.2(FAM111A):c.634T>C (p.Cys212Arg)
NM_001312909.2(FAM111A):c.636T>C (p.Cys212=)
NM_001312909.2(FAM111A):c.637_638del (p.Val213fs)
NM_001312909.2(FAM111A):c.63C>A (p.Ile21=)
NM_001312909.2(FAM111A):c.63C>T (p.Ile21=) rs147786828
NM_001312909.2(FAM111A):c.640T>C (p.Tyr214His)
NM_001312909.2(FAM111A):c.64G>A (p.Glu22Lys)
NM_001312909.2(FAM111A):c.655G>A (p.Glu219Lys)
NM_001312909.2(FAM111A):c.677G>T (p.Cys226Phe)
NM_001312909.2(FAM111A):c.681G>A (p.Lys227=)
NM_001312909.2(FAM111A):c.689G>C (p.Arg230Thr)
NM_001312909.2(FAM111A):c.690A>T (p.Arg230Ser)
NM_001312909.2(FAM111A):c.756C>G (p.Ser252Arg)
NM_001312909.2(FAM111A):c.761A>G (p.Gln254Arg) rs2135482162
NM_001312909.2(FAM111A):c.767T>C (p.Val256Ala)
NM_001312909.2(FAM111A):c.771T>C (p.Asp257=)
NM_001312909.2(FAM111A):c.797T>A (p.Val266Asp)
NM_001312909.2(FAM111A):c.802G>A (p.Val268Ile)
NM_001312909.2(FAM111A):c.80C>T (p.Pro27Leu)
NM_001312909.2(FAM111A):c.81+302del rs61083600
NM_001312909.2(FAM111A):c.812G>A (p.Arg271Lys)
NM_001312909.2(FAM111A):c.81G>A (p.Pro27=)
NM_001312909.2(FAM111A):c.82-1G>C rs1590950663
NM_001312909.2(FAM111A):c.82-9del
NM_001312909.2(FAM111A):c.822C>A (p.Pro274=)
NM_001312909.2(FAM111A):c.824G>T (p.Ser275Ile)
NM_001312909.2(FAM111A):c.832G>C (p.Ala278Pro)
NM_001312909.2(FAM111A):c.839A>C (p.Gln280Pro)
NM_001312909.2(FAM111A):c.847G>A (p.Glu283Lys)
NM_001312909.2(FAM111A):c.853G>C (p.Glu285Gln)
NM_001312909.2(FAM111A):c.859A>C (p.Arg287=)
NM_001312909.2(FAM111A):c.864C>G (p.Asn288Lys)
NM_001312909.2(FAM111A):c.864C>T (p.Asn288=)
NM_001312909.2(FAM111A):c.873G>C (p.Val291=)
NM_001312909.2(FAM111A):c.885A>G (p.Gln295=)
NM_001312909.2(FAM111A):c.886A>G (p.Ile296Val)
NM_001312909.2(FAM111A):c.889G>A (p.Val297Met)
NM_001312909.2(FAM111A):c.889G>T (p.Val297Leu)
NM_001312909.2(FAM111A):c.8G>C (p.Cys3Ser)
NM_001312909.2(FAM111A):c.910A>G (p.Lys304Glu)
NM_001312909.2(FAM111A):c.913A>G (p.Arg305Gly) rs2135483567

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