ClinVar Miner

List of variants in gene GDF5 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 203
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HGVS dbSNP gnomAD frequency
NM_000557.5(GDF5):c.631+102G>A rs115005136 0.00868
NM_000557.5(GDF5):c.*468G>A rs79051206 0.00818
NM_000557.5(GDF5):c.349G>T (p.Ala117Ser) rs151149144 0.00539
NM_000557.5(GDF5):c.388G>A (p.Gly130Arg) rs114550865 0.00263
NM_000557.5(GDF5):c.652A>C (p.Arg218=) rs116467702 0.00240
NM_000557.5(GDF5):c.462C>A (p.Pro154=) rs150686636 0.00236
NM_000557.5(GDF5):c.1083C>T (p.Arg361=) rs143723090 0.00029
NM_000557.5(GDF5):c.953G>C (p.Arg318Pro) rs201590447 0.00026
NM_000557.5(GDF5):c.855C>T (p.Gly285=) rs149593773 0.00025
NM_000557.5(GDF5):c.1029G>C (p.Leu343=) rs536732632 0.00022
NM_000557.5(GDF5):c.979C>G (p.Leu327Val) rs181772082 0.00021
NM_000557.5(GDF5):c.631+10C>T rs202206768 0.00014
NM_000557.5(GDF5):c.1473G>A (p.Glu491=) rs146951838 0.00011
NM_000557.5(GDF5):c.1309T>C (p.Leu437=) rs143202393 0.00006
NM_000557.5(GDF5):c.240C>T (p.Thr80=) rs369738392 0.00005
NM_000557.5(GDF5):c.720G>T (p.Arg240=) rs765125292 0.00003
NM_000557.5(GDF5):c.1122C>T (p.Phe374=) rs1237192347 0.00002
NM_000557.5(GDF5):c.1200C>T (p.Cys400=) rs1351186942 0.00002
NM_000557.5(GDF5):c.1104C>T (p.Thr368=) rs748907807 0.00001
NM_000557.5(GDF5):c.117G>A (p.Arg39=) rs780702378 0.00001
NM_000557.5(GDF5):c.1374C>G (p.Pro458=) rs776415223 0.00001
NM_000557.5(GDF5):c.297C>A (p.Pro99=) rs767477220 0.00001
NM_000557.5(GDF5):c.483G>A (p.Pro161=) rs752789551 0.00001
NM_000557.5(GDF5):c.537G>A (p.Thr179=) rs755019707 0.00001
NM_000557.5(GDF5):c.57G>T (p.Leu19=) rs746980493 0.00001
NM_000557.5(GDF5):c.627G>A (p.Gly209=) rs772004484 0.00001
NM_000557.5(GDF5):c.918G>A (p.Ser306=) rs771196534 0.00001
NM_000557.5(GDF5):c.963C>T (p.Ala321=) rs574958586 0.00001
NM_000557.5(GDF5):c.1005G>A (p.Gln335=)
NM_000557.5(GDF5):c.1011C>T (p.His337=)
NM_000557.5(GDF5):c.1029G>A (p.Leu343=) rs536732632
NM_000557.5(GDF5):c.1038C>T (p.Gly346=)
NM_000557.5(GDF5):c.1044C>A (p.Thr348=)
NM_000557.5(GDF5):c.1056C>T (p.Asp352=)
NM_000557.5(GDF5):c.105C>T (p.Pro35=)
NM_000557.5(GDF5):c.1068T>C (p.Asn356=)
NM_000557.5(GDF5):c.1077G>A (p.Lys359=)
NM_000557.5(GDF5):c.1086T>C (p.Ser362=)
NM_000557.5(GDF5):c.1086T>G (p.Ser362=)
NM_000557.5(GDF5):c.1092G>A (p.Gln364=)
NM_000557.5(GDF5):c.1095C>T (p.Asp365=)
NM_000557.5(GDF5):c.1104C>A (p.Thr368=)
NM_000557.5(GDF5):c.1107G>A (p.Val369=) rs769550242
NM_000557.5(GDF5):c.115A>C (p.Arg39=)
NM_000557.5(GDF5):c.1161C>T (p.Arg387=)
NM_000557.5(GDF5):c.1167C>G (p.Gly389=)
NM_000557.5(GDF5):c.1204C>A (p.Arg402=)
NM_000557.5(GDF5):c.120A>G (p.Pro40=)
NM_000557.5(GDF5):c.1224C>T (p.Asn408=)
NM_000557.5(GDF5):c.1233C>T (p.Asp411=)
NM_000557.5(GDF5):c.1245C>T (p.Asp415=)
NM_000557.5(GDF5):c.124T>C (p.Leu42=)
NM_000557.5(GDF5):c.1257C>T (p.Ile419=)
NM_000557.5(GDF5):c.1263C>A (p.Pro421=)
NM_000557.5(GDF5):c.126G>A (p.Leu42=)
NM_000557.5(GDF5):c.1272C>T (p.Tyr424=)
NM_000557.5(GDF5):c.1284C>T (p.His428=)
NM_000557.5(GDF5):c.1293G>A (p.Gly431=)
NM_000557.5(GDF5):c.1294C>T (p.Leu432=)
NM_000557.5(GDF5):c.1296G>A (p.Leu432=)
NM_000557.5(GDF5):c.1299C>T (p.Cys433=) rs886042958
NM_000557.5(GDF5):c.1332G>A (p.Thr444=)
NM_000557.5(GDF5):c.1332G>C (p.Thr444=)
NM_000557.5(GDF5):c.1362C>T (p.Asn454=)
NM_000557.5(GDF5):c.1371C>T (p.Asp457=)
NM_000557.5(GDF5):c.1374C>T (p.Pro458=)
NM_000557.5(GDF5):c.1383A>G (p.Thr461=)
NM_000557.5(GDF5):c.1386A>G (p.Pro462=)
NM_000557.5(GDF5):c.1407G>A (p.Thr469=)
NM_000557.5(GDF5):c.1408C>A (p.Arg470=)
NM_000557.5(GDF5):c.1425C>T (p.Ser475=)
NM_000557.5(GDF5):c.1452C>T (p.Asn484=)
NM_000557.5(GDF5):c.1458G>A (p.Val486=)
NM_000557.5(GDF5):c.1464G>A (p.Lys488=)
NM_000557.5(GDF5):c.1467G>A (p.Gln489=)
NM_000557.5(GDF5):c.1476C>T (p.Asp492=)
NM_000557.5(GDF5):c.147G>A (p.Glu49=)
NM_000557.5(GDF5):c.1482C>G (p.Val494=)
NM_000557.5(GDF5):c.1482C>T (p.Val494=)
NM_000557.5(GDF5):c.1485G>A (p.Val495=)
NM_000557.5(GDF5):c.1488G>A (p.Glu496=)
NM_000557.5(GDF5):c.1491G>A (p.Ser497=)
NM_000557.5(GDF5):c.1491G>T (p.Ser497=)
NM_000557.5(GDF5):c.1500C>T (p.Cys500=)
NM_000557.5(GDF5):c.1503G>A (p.Arg501=)
NM_000557.5(GDF5):c.156C>T (p.Pro52=)
NM_000557.5(GDF5):c.157C>T (p.Leu53=)
NM_000557.5(GDF5):c.159G>A (p.Leu53=)
NM_000557.5(GDF5):c.168C>T (p.Asn56=)
NM_000557.5(GDF5):c.174C>T (p.Phe58=)
NM_000557.5(GDF5):c.201G>A (p.Gly67=)
NM_000557.5(GDF5):c.231G>A (p.Lys77=)
NM_000557.5(GDF5):c.240C>A (p.Thr80=)
NM_000557.5(GDF5):c.243G>A (p.Gly81=)
NM_000557.5(GDF5):c.249A>G (p.Thr83=)
NM_000557.5(GDF5):c.24T>A (p.Thr8=)
NM_000557.5(GDF5):c.24T>C (p.Thr8=)
NM_000557.5(GDF5):c.255C>A (p.Gly85=)
NM_000557.5(GDF5):c.255C>T (p.Gly85=)
NM_000557.5(GDF5):c.261A>C (p.Thr87=)
NM_000557.5(GDF5):c.264G>A (p.Gln88=)
NM_000557.5(GDF5):c.289C>T (p.Leu97=)
NM_000557.5(GDF5):c.291G>A (p.Leu97=) rs2146583154
NM_000557.5(GDF5):c.297C>G (p.Pro99=)
NM_000557.5(GDF5):c.303G>A (p.Pro101=)
NM_000557.5(GDF5):c.306C>A (p.Gly102=) rs920670845
NM_000557.5(GDF5):c.306C>T (p.Gly102=)
NM_000557.5(GDF5):c.318C>G (p.Pro106=)
NM_000557.5(GDF5):c.363T>C (p.Thr121=)
NM_000557.5(GDF5):c.366G>T (p.Val122=)
NM_000557.5(GDF5):c.381G>A (p.Gln127=)
NM_000557.5(GDF5):c.387C>A (p.Pro129=)
NM_000557.5(GDF5):c.387C>T (p.Pro129=)
NM_000557.5(GDF5):c.453G>A (p.Glu151=)
NM_000557.5(GDF5):c.456C>T (p.Pro152=)
NM_000557.5(GDF5):c.466C>A (p.Arg156=)
NM_000557.5(GDF5):c.474C>T (p.Pro158=)
NM_000557.5(GDF5):c.477G>A (p.Lys159=)
NM_000557.5(GDF5):c.492A>T (p.Pro164=) rs2146582798
NM_000557.5(GDF5):c.495C>T (p.Pro165=)
NM_000557.5(GDF5):c.498C>T (p.Pro166=)
NM_000557.5(GDF5):c.4A>C (p.Arg2=)
NM_000557.5(GDF5):c.513G>A (p.Glu171=) rs2146582724
NM_000557.5(GDF5):c.525G>C (p.Ser175=)
NM_000557.5(GDF5):c.525G>T (p.Ser175=)
NM_000557.5(GDF5):c.537G>T (p.Thr179=)
NM_000557.5(GDF5):c.543C>G (p.Ser181=)
NM_000557.5(GDF5):c.543C>T (p.Ser181=) rs754016979
NM_000557.5(GDF5):c.549T>C (p.Ala183=)
NM_000557.5(GDF5):c.561A>T (p.Gly187=)
NM_000557.5(GDF5):c.564C>T (p.Gly188=)
NM_000557.5(GDF5):c.567C>T (p.Asn189=)
NM_000557.5(GDF5):c.573C>T (p.Ser191=)
NM_000557.5(GDF5):c.582G>A (p.Leu194=) rs2062476658
NM_000557.5(GDF5):c.585G>A (p.Glu195=)
NM_000557.5(GDF5):c.592C>T (p.Leu198=)
NM_000557.5(GDF5):c.597C>T (p.Ala199=)
NM_000557.5(GDF5):c.603C>A (p.Thr201=)
NM_000557.5(GDF5):c.603C>G (p.Thr201=) rs1015439138
NM_000557.5(GDF5):c.606C>T (p.Ile202=)
NM_000557.5(GDF5):c.627G>T (p.Gly209=)
NM_000557.5(GDF5):c.631+10C>G
NM_000557.5(GDF5):c.631+11G>A
NM_000557.5(GDF5):c.631+14G>A
NM_000557.5(GDF5):c.631+19A>T
NM_000557.5(GDF5):c.631+20G>A
NM_000557.5(GDF5):c.632-11G>A
NM_000557.5(GDF5):c.632-14G>A
NM_000557.5(GDF5):c.632-16T>C
NM_000557.5(GDF5):c.632-18T>G
NM_000557.5(GDF5):c.632-7T>C
NM_000557.5(GDF5):c.637C>A (p.Arg213=)
NM_000557.5(GDF5):c.645C>T (p.Pro215=)
NM_000557.5(GDF5):c.648G>A (p.Val216=)
NM_000557.5(GDF5):c.648G>T (p.Val216=) rs747277301
NM_000557.5(GDF5):c.666C>T (p.Tyr222=)
NM_000557.5(GDF5):c.672T>C (p.Phe224=)
NM_000557.5(GDF5):c.675C>T (p.Asp225=)
NM_000557.5(GDF5):c.685C>T (p.Leu229=)
NM_000557.5(GDF5):c.687G>A (p.Leu229=)
NM_000557.5(GDF5):c.693G>A (p.Lys231=)
NM_000557.5(GDF5):c.702G>C (p.Leu234=)
NM_000557.5(GDF5):c.711C>T (p.Ala237=)
NM_000557.5(GDF5):c.715C>T (p.Leu239=)
NM_000557.5(GDF5):c.724T>C (p.Leu242=)
NM_000557.5(GDF5):c.732G>A (p.Lys244=)
NM_000557.5(GDF5):c.735G>A (p.Lys245=)
NM_000557.5(GDF5):c.747G>C (p.Thr249=)
NM_000557.5(GDF5):c.753G>A (p.Lys251=)
NM_000557.5(GDF5):c.759G>C (p.Ala253=)
NM_000557.5(GDF5):c.771C>T (p.Gly257=)
NM_000557.5(GDF5):c.774G>A (p.Gly258=)
NM_000557.5(GDF5):c.774G>C (p.Gly258=)
NM_000557.5(GDF5):c.774G>T (p.Gly258=)
NM_000557.5(GDF5):c.777G>A (p.Arg259=)
NM_000557.5(GDF5):c.777G>T (p.Arg259=)
NM_000557.5(GDF5):c.783C>G (p.Ala261=)
NM_000557.5(GDF5):c.786G>A (p.Gln262=)
NM_000557.5(GDF5):c.789G>A (p.Leu263=) rs752445358
NM_000557.5(GDF5):c.793C>T (p.Leu265=)
NM_000557.5(GDF5):c.795G>A (p.Leu265=)
NM_000557.5(GDF5):c.810C>T (p.Ser270=)
NM_000557.5(GDF5):c.816G>A (p.Arg272=)
NM_000557.5(GDF5):c.81T>C (p.Gly27=)
NM_000557.5(GDF5):c.832C>T (p.Leu278=)
NM_000557.5(GDF5):c.840G>A (p.Val280=)
NM_000557.5(GDF5):c.846C>T (p.Ser282=)
NM_000557.5(GDF5):c.856C>T (p.Leu286=)
NM_000557.5(GDF5):c.861C>T (p.Asp287=)
NM_000557.5(GDF5):c.876G>A (p.Glu292=)
NM_000557.5(GDF5):c.903A>G (p.Arg301=)
NM_000557.5(GDF5):c.915C>T (p.Asn305=)
NM_000557.5(GDF5):c.921C>G (p.Ala307=)
NM_000557.5(GDF5):c.954G>C (p.Arg318=)
NM_000557.5(GDF5):c.957C>T (p.Gly319=)
NM_000557.5(GDF5):c.963C>G (p.Ala321=)
NM_000557.5(GDF5):c.966G>C (p.Val322=)
NM_000557.5(GDF5):c.96C>T (p.Gly32=)
NM_000557.5(GDF5):c.975T>C (p.Arg325=)
NM_000557.5(GDF5):c.978C>G (p.Gly326=)
NM_000557.5(GDF5):c.981G>A (p.Leu327=)
NM_000557.5(GDF5):c.987C>T (p.Phe329=)
NM_000557.5(GDF5):c.993C>T (p.Arg331=)

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