ClinVar Miner

List of variants reported as likely pathogenic by Neurogenetics Research Program, University of Adelaide

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_004366.6(CLCN2):c.1730G>A (p.Arg577Gln) rs137852682 0.00047
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly) rs142053576 0.00024
NM_000312.4(PROC):c.226G>A (p.Val76Met) rs121918149 0.00008
NM_000719.7(CACNA1C):c.3568G>T (p.Val1190Leu) rs1048241141 0.00001
Multiple alleles
NM_000834.5(GRIN2B):c.1739T>A (p.Phe580Tyr) rs199801114
NM_001127222.2(CACNA1A):c.7249G>T (p.Glu2417Ter) rs1008881855
NM_001184880.2(PCDH19):c.1123G>A (p.Asp375Asn) rs1928407580
NM_001184880.2(PCDH19):c.1335C>A (p.Asp445Glu) rs796052815
NM_001184880.2(PCDH19):c.1469A>C (p.Tyr490Ser) rs1555985142
NM_001184880.2(PCDH19):c.1469A>G (p.Tyr490Cys) rs1555985142
NM_001184880.2(PCDH19):c.1495G>T (p.Asp499Tyr) rs1928383077
NM_001184880.2(PCDH19):c.1672G>C (p.Asp558His) rs748611349
NM_001184880.2(PCDH19):c.1919T>G (p.Leu640Arg) rs1928358562
NM_001184880.2(PCDH19):c.1960G>C (p.Ala654Pro) rs1928356260
NM_001184880.2(PCDH19):c.602A>C (p.Gln201Pro) rs1928446616
NM_001184880.2(PCDH19):c.779T>G (p.Leu260Arg) rs1928431321
NM_001184880.2(PCDH19):c.799G>A (p.Glu267Lys) rs1057524751
NM_001184880.2(PCDH19):c.824A>G (p.Tyr275Cys) rs1928426496
NM_001267550.2(TTN):c.50473C>T (p.Gln16825Ter) rs2154199961
NM_001845.6(COL4A1):c.1258G>A (p.Gly420Arg) rs2139187274
NM_001846.4(COL4A2):c.3625G>A (p.Gly1209Arg) rs2139538791
NM_001846.4(COL4A2):c.4049G>A (p.Gly1350Asp) rs2139552522
NM_001846.4(COL4A2):c.957+2T>C rs1013146465
NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys) rs138008832
NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys) rs2147938135
NM_014874.4(MFN2):c.2220G>A (p.Trp740Ter) rs1060501925
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs) rs797045067
NM_017415.3(KLHL3):c.1692G>A (p.Trp564Ter) rs2149876234
NM_020738.4(KIDINS220):c.4497del (p.Arg1499fs) rs2147944830
NM_020754.4(ARHGAP31):c.1700del (p.Pro567fs) rs2107644554
NM_080552.3(SLC32A1):c.1382G>A (p.Gly461Asp) rs2084286884
NM_080552.3(SLC32A1):c.1391C>G (p.Thr464Arg) rs2084286911
NM_080552.3(SLC32A1):c.1403T>C (p.Leu468Pro) rs2084286998
NM_080552.3(SLC32A1):c.989T>C (p.Met330Thr) rs2084284179

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