ClinVar Miner

List of variants reported as pathogenic by Wendy Chung Laboratory, Columbia University Medical Center

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001367549.1(ATP13A3):c.2549dup (p.Met850fs) rs1560082927 0.00001
NM_001127222.2(CACNA1A):c.1635C>A (p.Tyr545Ter) rs1427473572
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg) rs2057947681
NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met) rs2144979269
NM_001127222.2(CACNA1A):c.2311A>T (p.Lys771Ter) rs2144958410
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4055C>T (p.Pro1352Leu) rs1064794808
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile) rs2056767062
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127222.2(CACNA1A):c.4519G>A (p.Ala1507Thr) rs886037946
NM_001127222.2(CACNA1A):c.5015dup (p.Gln1673fs) rs2144649756
NM_001127222.2(CACNA1A):c.5335C>T (p.Arg1779Ter) rs2144629622
NM_001127222.2(CACNA1A):c.841del (p.Cys281fs) rs2145245595
NM_001321120.2(TBX4):c.1057C>T (p.Arg353Ter) rs1603256040
NM_001321120.2(TBX4):c.251del (p.Gly84fs) rs1603248606
NM_001321120.2(TBX4):c.379T>A (p.Tyr127Asn) rs2143821228
NM_001321120.2(TBX4):c.985G>T (p.Asp329Tyr) rs150233337
NM_001367549.1(ATP13A3):c.3079dup (p.Trp1027fs) rs746602775
NM_001367549.1(ATP13A3):c.3685G>T (p.Glu1229Ter) rs200914446
NM_017934.7(PHIP):c.1654-2A>C
NM_017934.7(PHIP):c.2306_2309del (p.Pro769fs)
NM_017934.7(PHIP):c.2744_2747del (p.Lys915fs) rs1562150844
NM_017934.7(PHIP):c.3161del (p.Val1053_Leu1054insTer) rs1562134961
NM_017934.7(PHIP):c.3394G>T (p.Glu1132Ter)
NM_017934.7(PHIP):c.3499del (p.Arg1167fs)
NM_017934.7(PHIP):c.3595del (p.Thr1198_Val1199insTer) rs1562127631
NM_017934.7(PHIP):c.3631_3634del (p.Gln1211fs) rs1766794792
NM_017934.7(PHIP):c.3952dup (p.Ile1318fs)
NM_017934.7(PHIP):c.4570del (p.Ser1524fs) rs1562114190
NM_017934.7(PHIP):c.540_541insA (p.Gly181fs) rs1562203136
NM_017934.7(PHIP):c.598_599delinsT (p.Thr200fs) rs1554210073
NM_017934.7(PHIP):c.820C>T (p.Gln274Ter)

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