ClinVar Miner

List of variants reported as uncertain significance for cerebellar dysfunction with variable cognitive and behavioral abnormalities

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_015215.4(CAMTA1):c.1559G>A (p.Arg520Gln) rs138288107 0.00016
NM_015215.4(CAMTA1):c.3853G>A (p.Glu1285Lys) rs375995525 0.00012
NM_015215.4(CAMTA1):c.718G>A (p.Val240Met) rs755920468 0.00005
NM_015215.4(CAMTA1):c.4478C>T (p.Ala1493Val) rs147636995 0.00004
NM_015215.4(CAMTA1):c.4977G>T (p.Arg1659Ser) rs373331254 0.00004
NM_015215.4(CAMTA1):c.3892C>T (p.Arg1298Trp) rs145964068 0.00003
NM_015215.4(CAMTA1):c.439-60758C>T rs997317904 0.00003
NM_015215.4(CAMTA1):c.1618G>A (p.Glu540Lys) rs200732212 0.00002
NM_015215.4(CAMTA1):c.2003C>A (p.Ser668Tyr) rs2095986041 0.00001
NM_015215.4(CAMTA1):c.2227G>A (p.Gly743Arg) rs965685976 0.00001
NM_015215.4(CAMTA1):c.2974G>A (p.Glu992Lys) rs774307423 0.00001
NM_015215.4(CAMTA1):c.940G>A (p.Glu314Lys) rs758739555 0.00001
NM_001167740.2(SMYD3):c.814-5812_814-3813del
NM_002508.3(NID1):c.2129-2427_2405-658del
NM_006237.4(POU4F1):c.445G>A (p.Gly149Ser)
NM_015215.4(CAMTA1):c.1024G>A (p.Glu342Lys)
NM_015215.4(CAMTA1):c.1079T>G (p.Val360Gly)
NM_015215.4(CAMTA1):c.1105G>A (p.Asp369Asn)
NM_015215.4(CAMTA1):c.1171G>A (p.Gly391Arg)
NM_015215.4(CAMTA1):c.1187G>A (p.Ser396Asn) rs2095980355
NM_015215.4(CAMTA1):c.1202T>C (p.Met401Thr)
NM_015215.4(CAMTA1):c.1223C>A (p.Ala408Asp)
NM_015215.4(CAMTA1):c.1378G>A (p.Val460Met)
NM_015215.4(CAMTA1):c.1456G>A (p.Asp486Asn)
NM_015215.4(CAMTA1):c.1514C>G (p.Ala505Gly)
NM_015215.4(CAMTA1):c.154T>A (p.Phe52Ile) rs879255532
NM_015215.4(CAMTA1):c.1580T>G (p.Val527Gly)
NM_015215.4(CAMTA1):c.1690G>A (p.Ala564Thr)
NM_015215.4(CAMTA1):c.1762G>A (p.Ala588Thr)
NM_015215.4(CAMTA1):c.1892C>A (p.Thr631Asn)
NM_015215.4(CAMTA1):c.1927G>A (p.Val643Met)
NM_015215.4(CAMTA1):c.1999G>A (p.Glu667Lys)
NM_015215.4(CAMTA1):c.2084C>T (p.Ser695Leu)
NM_015215.4(CAMTA1):c.2210C>T (p.Pro737Leu)
NM_015215.4(CAMTA1):c.2272A>T (p.Met758Leu)
NM_015215.4(CAMTA1):c.229A>G (p.Asn77Asp) rs1557636777
NM_015215.4(CAMTA1):c.241G>A (p.Ala81Thr)
NM_015215.4(CAMTA1):c.2431C>T (p.Arg811Trp)
NM_015215.4(CAMTA1):c.2470T>C (p.Cys824Arg) rs2095989201
NM_015215.4(CAMTA1):c.2473A>G (p.Ser825Gly) rs765488241
NM_015215.4(CAMTA1):c.2521A>C (p.Ser841Arg)
NM_015215.4(CAMTA1):c.2585G>C (p.Gly862Ala)
NM_015215.4(CAMTA1):c.2605C>T (p.Arg869Trp)
NM_015215.4(CAMTA1):c.2616G>A (p.Met872Ile)
NM_015215.4(CAMTA1):c.2687A>G (p.Gln896Arg)
NM_015215.4(CAMTA1):c.2779+5G>A rs2149222075
NM_015215.4(CAMTA1):c.2810T>C (p.Val937Ala) rs2096135808
NM_015215.4(CAMTA1):c.281T>A (p.Leu94Gln)
NM_015215.4(CAMTA1):c.2840C>T (p.Ser947Leu) rs113652510
NM_015215.4(CAMTA1):c.2867C>T (p.Ala956Val)
NM_015215.4(CAMTA1):c.2907G>A (p.Ser969=)
NM_015215.4(CAMTA1):c.2981C>G (p.Thr994Arg)
NM_015215.4(CAMTA1):c.3025G>A (p.Gly1009Arg)
NM_015215.4(CAMTA1):c.3350C>T (p.Ala1117Val)
NM_015215.4(CAMTA1):c.3356C>T (p.Ala1119Val) rs1577305812
NM_015215.4(CAMTA1):c.3427C>A (p.Leu1143Ile)
NM_015215.4(CAMTA1):c.3457T>C (p.Ser1153Pro)
NM_015215.4(CAMTA1):c.3521T>C (p.Leu1174Pro)
NM_015215.4(CAMTA1):c.3532C>G (p.Pro1178Ala)
NM_015215.4(CAMTA1):c.3547C>T (p.Pro1183Ser)
NM_015215.4(CAMTA1):c.363del (p.Tyr122fs) rs2149302921
NM_015215.4(CAMTA1):c.3828C>A (p.Ser1276Arg)
NM_015215.4(CAMTA1):c.3862A>G (p.Ser1288Gly)
NM_015215.4(CAMTA1):c.3922_3930del (p.Ala1308_Phe1310del)
NM_015215.4(CAMTA1):c.4115C>T (p.Thr1372Ile)
NM_015215.4(CAMTA1):c.4187A>C (p.Asn1396Thr)
NM_015215.4(CAMTA1):c.4223C>T (p.Thr1408Ile) rs1435279555
NM_015215.4(CAMTA1):c.4399TCT[1] (p.Ser1468del)
NM_015215.4(CAMTA1):c.4435G>T (p.Val1479Phe)
NM_015215.4(CAMTA1):c.4489G>C (p.Glu1497Gln)
NM_015215.4(CAMTA1):c.45+5G>A
NM_015215.4(CAMTA1):c.4511G>A (p.Ser1504Asn)
NM_015215.4(CAMTA1):c.4621C>T (p.Arg1541Ter) rs2096866595
NM_015215.4(CAMTA1):c.4622G>T (p.Arg1541Leu)
NM_015215.4(CAMTA1):c.4666C>T (p.Arg1556Cys)
NM_015215.4(CAMTA1):c.4990-3503A>C rs2150309041
NM_015215.4(CAMTA1):c.511-22_511-19del rs2095751767
NM_015215.4(CAMTA1):c.550G>A (p.Ala184Thr)
NM_015215.4(CAMTA1):c.596_598del (p.Ile199del)
NM_015215.4(CAMTA1):c.638A>C (p.Glu213Ala)
NM_015215.4(CAMTA1):c.646G>T (p.Gly216Trp)
NM_015215.4(CAMTA1):c.699C>G (p.Asn233Lys)
NM_015215.4(CAMTA1):c.782A>G (p.Asn261Ser)
NM_015215.4(CAMTA1):c.809C>T (p.Ala270Val) rs2149152505
NM_015215.4(CAMTA1):c.851G>A (p.Arg284His) rs767725186
NM_015215.4(CAMTA1):c.968G>A (p.Arg323His)
NM_022114.4(PRDM16):c.439-11715_439-4716del
Single allele

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