ClinVar Miner

List of variants reported as likely pathogenic for malignant migrating partial seizures of infancy by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.636+1G>T rs1247055716 0.00004
NM_007254.4(PNKP):c.1387-2A>G rs766419491 0.00002
NM_007254.4(PNKP):c.865+1G>A rs762003634 0.00002
NM_020822.3(KCNT1):c.1067G>A (p.Arg356Gln) rs758152252 0.00002
NM_007254.4(PNKP):c.1188+1G>A rs1057518102 0.00001
NM_007254.4(PNKP):c.1298+1_1298+10del rs1568658916 0.00001
NM_020822.3(KCNT1):c.73C>T (p.Arg25Trp) rs775807509 0.00001
NM_020822.3(KCNT1):c.784C>T (p.Arg262Trp) rs375711140 0.00001
NC_000020.10:g.(?_8661338)_(8678351_?)del
NC_000020.10:g.(?_8665559)_(8770928_?)dup
NM_007254.4(PNKP):c.1126+1G>C
NM_007254.4(PNKP):c.1296_1298+13del
NM_007254.4(PNKP):c.1298+1G>A rs149614720
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro) rs376854895
NM_007254.4(PNKP):c.1386+1G>C rs1057520630
NM_007254.4(PNKP):c.152-1G>A
NM_007254.4(PNKP):c.152-2A>C
NM_007254.4(PNKP):c.199-2A>G rs1391913873
NM_007254.4(PNKP):c.636+1G>C rs1247055716
NM_007254.4(PNKP):c.744+1G>C
NM_007254.4(PNKP):c.816+2T>C
NM_007254.4(PNKP):c.865+1G>T
NM_015192.4(PLCB1):c.1168-1G>A rs2123451785
NM_015192.4(PLCB1):c.1514-1G>A
NM_015192.4(PLCB1):c.1763+2T>C
NM_015192.4(PLCB1):c.178-2A>G
NM_015192.4(PLCB1):c.1888+1G>A
NM_015192.4(PLCB1):c.2208+1G>A rs1235234848
NM_015192.4(PLCB1):c.2656+1G>T
NM_015192.4(PLCB1):c.464+1G>A
NM_015192.4(PLCB1):c.465-2A>C rs2123290747
NM_015192.4(PLCB1):c.862+1G>A
NM_020708.5(SLC12A5):c.1337-2A>G
NM_020708.5(SLC12A5):c.147+1G>A
NM_020708.5(SLC12A5):c.1583G>A (p.Gly528Asp) rs863225305
NM_020708.5(SLC12A5):c.2012+1G>T rs2145497450
NM_020708.5(SLC12A5):c.3110+1G>A
NM_020708.5(SLC12A5):c.53-2A>C
NM_020708.5(SLC12A5):c.53-2A>G rs2084483775
NM_020708.5(SLC12A5):c.854+1G>A
NM_020822.3(KCNT1):c.1038C>A (p.Phe346Leu) rs767434859
NM_020822.3(KCNT1):c.1309C>A (p.Leu437Ile) rs1057518066
NM_020822.3(KCNT1):c.1438G>A (p.Asp480Asn)
NM_020822.3(KCNT1):c.1505T>C (p.Phe502Ser)
NM_020822.3(KCNT1):c.2800G>T (p.Ala934Ser) rs397515403
NM_020822.3(KCNT1):c.2807A>G (p.Asp936Gly)
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
NM_020822.3(KCNT1):c.775G>A (p.Ala259Thr) rs1831666357
NM_020822.3(KCNT1):c.808C>A (p.Gln270Lys)
NM_020822.3(KCNT1):c.862G>T (p.Gly288Cys) rs587777264

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.