ClinVar Miner

List of variants reported as uncertain significance for cerebral palsy by Invitae

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000817.3(GAD1):c.484C>G (p.Pro162Ala) rs145603819 0.00045
NM_000817.3(GAD1):c.380A>T (p.Tyr127Phe) rs141004978 0.00036
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.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.34T>A (p.Ser12Thr) rs149074954 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.1519G>A (p.Glu507Lys) rs780328766 0.00002
NM_000817.3(GAD1):c.251G>A (p.Arg84Gln) rs200092679 0.00002
NM_000817.3(GAD1):c.896C>T (p.Ala299Val) rs762950875 0.00002
NM_000817.3(GAD1):c.1334C>T (p.Ser445Phe) rs1169710215 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.54C>A (p.Asp18Glu) rs758731063 0.00001
NM_000817.3(GAD1):c.638+10A>G rs769537621 0.00001
NM_000817.3(GAD1):c.1002+4T>C
NM_000817.3(GAD1):c.103G>A (p.Val35Met)
NM_000817.3(GAD1):c.1159C>T (p.Arg387Cys)
NM_000817.3(GAD1):c.1251_1252delinsTT (p.Val418Phe) rs1575445561
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+6T>A
NM_000817.3(GAD1):c.1265G>A (p.Gly422Asp) rs965039416
NM_000817.3(GAD1):c.1525G>C (p.Glu509Gln) rs1381723796
NM_000817.3(GAD1):c.1594C>T (p.Arg532Trp)
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.1747C>T (p.Leu583Phe) rs1208499139
NM_000817.3(GAD1):c.236G>A (p.Cys79Tyr) rs2105775770
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.449G>T (p.Gly150Val) rs2105778502
NM_000817.3(GAD1):c.61A>G (p.Thr21Ala)
NM_000817.3(GAD1):c.757G>A (p.Ala253Thr) rs2105799342
NM_000817.3(GAD1):c.885G>C (p.Lys295Asn) rs2105799723
NM_000817.3(GAD1):c.962C>T (p.Pro321Leu)

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