ClinVar Miner

List of variants studied for cerebral palsy by Invitae

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 137
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HGVS dbSNP gnomAD frequency
NM_000817.3(GAD1):c.111T>C (p.His37=) rs769404 0.34892
NM_000817.3(GAD1):c.1595G>A (p.Arg532Gln) rs769402 0.05855
NM_000817.3(GAD1):c.1450C>T (p.Leu484=) rs769392 0.04124
NM_000817.3(GAD1):c.1002+12G>A rs701491 0.02121
NM_000817.3(GAD1):c.1612-3A>G rs113828797 0.00179
NM_000817.3(GAD1):c.1184+5C>T rs188460575 0.00173
NM_000817.3(GAD1):c.1473T>C (p.Tyr491=) rs146199288 0.00168
NM_000817.3(GAD1):c.1173C>T (p.Asn391=) rs34856125 0.00094
NM_000817.3(GAD1):c.1251C>T (p.Leu417=) rs35426017 0.00094
NM_000817.3(GAD1):c.807G>A (p.Pro269=) rs34100397 0.00094
NM_000817.3(GAD1):c.1611+5G>A rs147201199 0.00070
NM_000817.3(GAD1):c.1002+4T>G rs139531653 0.00060
NM_000817.3(GAD1):c.399T>C (p.Asp133=) rs112737041 0.00058
NM_000817.3(GAD1):c.484C>G (p.Pro162Ala) rs145603819 0.00045
NM_000817.3(GAD1):c.682A>C (p.Ile228Leu) rs45566933 0.00040
NM_000817.3(GAD1):c.380A>T (p.Tyr127Phe) rs141004978 0.00036
NM_000817.3(GAD1):c.1184+17G>A rs180969459 0.00033
NM_000817.3(GAD1):c.1773C>A (p.Gly591=) rs202061730 0.00020
NM_000817.3(GAD1):c.80C>A (p.Thr27Lys) rs77655188 0.00015
NM_000817.3(GAD1):c.146-16G>T rs375708573 0.00013
NM_000817.3(GAD1):c.1120-8C>A rs113638388 0.00011
NM_000817.3(GAD1):c.269G>A (p.Arg90His) rs372095902 0.00011
NM_000817.3(GAD1):c.249C>A (p.Asp83Glu) rs201750984 0.00010
NM_000817.3(GAD1):c.203A>G (p.Lys68Arg) rs112605975 0.00008
NM_000817.3(GAD1):c.268C>T (p.Arg90Cys) rs373042715 0.00008
NM_000817.3(GAD1):c.381T>C (p.Tyr127=) rs144952710 0.00008
NM_000817.3(GAD1):c.177G>C (p.Glu59Asp) rs138838552 0.00005
NM_000817.3(GAD1):c.385C>A (p.Arg129Ser) rs779472420 0.00005
NM_000817.3(GAD1):c.1184+6G>A rs755825439 0.00004
NM_000817.3(GAD1):c.1338C>T (p.Tyr446=) rs368382588 0.00004
NM_000817.3(GAD1):c.34T>A (p.Ser12Thr) rs149074954 0.00004
NM_000817.3(GAD1):c.639-9C>A rs568985468 0.00004
NM_000817.3(GAD1):c.830C>T (p.Ala277Val) rs143319979 0.00004
NM_000817.3(GAD1):c.266G>A (p.Arg89Gln) rs201233553 0.00003
NM_000817.3(GAD1):c.1095A>G (p.Lys365=) rs188421952 0.00002
NM_000817.3(GAD1):c.146-19C>T rs371063297 0.00002
NM_000817.3(GAD1):c.1519G>A (p.Glu507Lys) rs780328766 0.00002
NM_000817.3(GAD1):c.1743C>T (p.Asp581=) rs1317143621 0.00002
NM_000817.3(GAD1):c.251G>A (p.Arg84Gln) rs200092679 0.00002
NM_000817.3(GAD1):c.39G>T (p.Ser13=) rs929172235 0.00002
NM_000817.3(GAD1):c.896C>T (p.Ala299Val) rs762950875 0.00002
NM_000817.3(GAD1):c.1140G>C (p.Leu380=) rs777210775 0.00001
NM_000817.3(GAD1):c.1334C>T (p.Ser445Phe) rs1169710215 0.00001
NM_000817.3(GAD1):c.1443C>T (p.Asn481=) rs376911115 0.00001
NM_000817.3(GAD1):c.145+9C>T rs780023152 0.00001
NM_000817.3(GAD1):c.146-15C>A rs751440255 0.00001
NM_000817.3(GAD1):c.1521+15T>C rs368040195 0.00001
NM_000817.3(GAD1):c.1557A>G (p.Pro519=) rs751929630 0.00001
NM_000817.3(GAD1):c.1612-8A>G rs745826552 0.00001
NM_000817.3(GAD1):c.1652C>T (p.Thr551Met) rs762878619 0.00001
NM_000817.3(GAD1):c.1723G>A (p.Ala575Thr) rs527691350 0.00001
NM_000817.3(GAD1):c.1731G>A (p.Gln577=) rs1406741140 0.00001
NM_000817.3(GAD1):c.1758G>A (p.Glu586=) rs749549342 0.00001
NM_000817.3(GAD1):c.213A>G (p.Gln71=) rs201580970 0.00001
NM_000817.3(GAD1):c.54C>A (p.Asp18Glu) rs758731063 0.00001
NM_000817.3(GAD1):c.591T>C (p.Ile197=) rs758038896 0.00001
NM_000817.3(GAD1):c.624G>A (p.Thr208=) rs781046977 0.00001
NM_000817.3(GAD1):c.638+10A>G rs769537621 0.00001
NM_000817.3(GAD1):c.819A>G (p.Thr273=) rs754014995 0.00001
NM_000817.3(GAD1):c.868-19G>A rs780279882 0.00001
NM_000817.3(GAD1):c.1002+11C>T
NM_000817.3(GAD1):c.1002+4T>C
NM_000817.3(GAD1):c.1003-10del
NM_000817.3(GAD1):c.1003-20A>G
NM_000817.3(GAD1):c.103G>A (p.Val35Met)
NM_000817.3(GAD1):c.1120-11T>C rs2105803929
NM_000817.3(GAD1):c.1120-9T>A
NM_000817.3(GAD1):c.114A>T (p.Gly38=)
NM_000817.3(GAD1):c.1159C>T (p.Arg387Cys)
NM_000817.3(GAD1):c.1185-18C>T
NM_000817.3(GAD1):c.1224C>G (p.Gly408=)
NM_000817.3(GAD1):c.1224C>T (p.Gly408=)
NM_000817.3(GAD1):c.1251_1252delinsTT (p.Val418Phe) rs1575445561
NM_000817.3(GAD1):c.1252G>A (p.Val418Ile) rs143058194
NM_000817.3(GAD1):c.1252G>T (p.Val418Phe) rs143058194
NM_000817.3(GAD1):c.1259A>G (p.Glu420Gly)
NM_000817.3(GAD1):c.1263+10C>T
NM_000817.3(GAD1):c.1263+11C>A rs1231630904
NM_000817.3(GAD1):c.1263+6T>A
NM_000817.3(GAD1):c.1263+8C>T
NM_000817.3(GAD1):c.1265G>A (p.Gly422Asp) rs965039416
NM_000817.3(GAD1):c.1323G>A (p.Gln441=)
NM_000817.3(GAD1):c.1413+9G>A
NM_000817.3(GAD1):c.1414-9T>C
NM_000817.3(GAD1):c.145+15C>T
NM_000817.3(GAD1):c.1452G>A (p.Leu484=) rs764128869
NM_000817.3(GAD1):c.1467C>T (p.Tyr489=)
NM_000817.3(GAD1):c.1521+17G>C rs747607536
NM_000817.3(GAD1):c.1525G>C (p.Glu509Gln) rs1381723796
NM_000817.3(GAD1):c.1566C>A (p.Leu522=)
NM_000817.3(GAD1):c.1569G>A (p.Arg523=)
NM_000817.3(GAD1):c.1594C>T (p.Arg532Trp)
NM_000817.3(GAD1):c.1611+12C>G
NM_000817.3(GAD1):c.1612-15G>A rs1702920125
NM_000817.3(GAD1):c.1638G>C (p.Met546Ile) rs1702920979
NM_000817.3(GAD1):c.1672C>G (p.Pro558Ala)
NM_000817.3(GAD1):c.167G>T (p.Ser56Ile)
NM_000817.3(GAD1):c.1702A>T (p.Met568Leu)
NM_000817.3(GAD1):c.1722C>T (p.Ala574=) rs1702922977
NM_000817.3(GAD1):c.1728C>A (p.Thr576=)
NM_000817.3(GAD1):c.1747C>T (p.Leu583Phe) rs1208499139
NM_000817.3(GAD1):c.18A>G (p.Pro6=)
NM_000817.3(GAD1):c.198C>T (p.Ala66=) rs1575430287
NM_000817.3(GAD1):c.236G>A (p.Cys79Tyr) rs2105775770
NM_000817.3(GAD1):c.265C>T (p.Arg89Trp) rs150841255
NM_000817.3(GAD1):c.304+14C>G rs1365697142
NM_000817.3(GAD1):c.304+18C>G
NM_000817.3(GAD1):c.304+20C>T
NM_000817.3(GAD1):c.305-10C>T rs1384888005
NM_000817.3(GAD1):c.315G>T (p.Pro105=) rs112067895
NM_000817.3(GAD1):c.321G>A (p.Lys107=) rs549653544
NM_000817.3(GAD1):c.326G>C (p.Gly109Ala) rs1228823911
NM_000817.3(GAD1):c.331G>A (p.Glu111Lys) rs2105778312
NM_000817.3(GAD1):c.382G>A (p.Val128Ile) rs1702206902
NM_000817.3(GAD1):c.38C>T (p.Ser13Leu)
NM_000817.3(GAD1):c.405C>T (p.Ser135=)
NM_000817.3(GAD1):c.429C>T (p.His143=)
NM_000817.3(GAD1):c.449G>T (p.Gly150Val) rs2105778502
NM_000817.3(GAD1):c.477T>C (p.Ser159=)
NM_000817.3(GAD1):c.486C>T (p.Pro162=)
NM_000817.3(GAD1):c.493C>T (p.Leu165=)
NM_000817.3(GAD1):c.51G>A (p.Ala17=)
NM_000817.3(GAD1):c.548-2A>C
NM_000817.3(GAD1):c.61A>G (p.Thr21Ala)
NM_000817.3(GAD1):c.633C>T (p.Thr211=)
NM_000817.3(GAD1):c.638+18dup
NM_000817.3(GAD1):c.705G>A (p.Glu235=)
NM_000817.3(GAD1):c.751+20del
NM_000817.3(GAD1):c.757G>A (p.Ala253Thr) rs2105799342
NM_000817.3(GAD1):c.83-5C>T
NM_000817.3(GAD1):c.83-7del
NM_000817.3(GAD1):c.846G>T (p.Leu282=) rs2105799494
NM_000817.3(GAD1):c.865C>T (p.Gln289Ter) rs1181224255
NM_000817.3(GAD1):c.867+14G>A
NM_000817.3(GAD1):c.867+18T>C
NM_000817.3(GAD1):c.885G>C (p.Lys295Asn) rs2105799723
NM_000817.3(GAD1):c.962C>T (p.Pro321Leu)

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