List of variants in gene combination KCNQ1, KCNQ1OT1 reported as uncertain significance for cardiovascular disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_000218.3(KCNQ1):c.1459G>A (p.Glu487Lys)	rs1205552952	0.00015
NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=)	rs370676650	0.00011
NM_000218.3(KCNQ1):c.1456G>A (p.Ala486Thr)	rs753256800	0.00004
NM_000218.3(KCNQ1):c.1514+3G>A	rs374767819	0.00003
NM_000218.3(KCNQ1):c.1415T>C (p.Leu472Pro)	rs544402388	0.00001
NM_000218.3(KCNQ1):c.1449C>A (p.Asn483Lys)	rs1849966701	0.00001
NM_000218.3(KCNQ1):c.1464C>A (p.Asp488Glu)	rs778041701	0.00001
NM_000218.3(KCNQ1):c.1498A>G (p.Ile500Val)	rs189794855	0.00001
NM_000218.3(KCNQ1):c.1501A>G (p.Thr501Ala)	rs749196110	0.00001
NM_000218.3(KCNQ1):c.1514+9C>T	rs770840921	0.00001
NC_000011.9:g.(?_2549148)_(2683321_?)dup
NM_000218.3(KCNQ1):c.1394-13A>G	rs747187696
NM_000218.3(KCNQ1):c.1394-3C>T	rs2133855922
NM_000218.3(KCNQ1):c.1394-8C>T	rs371488379
NM_000218.3(KCNQ1):c.1405C>T (p.Pro469Ser)
NM_000218.3(KCNQ1):c.1406C>T (p.Pro469Leu)
NM_000218.3(KCNQ1):c.1408A>G (p.Thr470Ala)	rs2133855949
NM_000218.3(KCNQ1):c.1429C>T (p.Pro477Ser)	rs1162587598
NM_000218.3(KCNQ1):c.1430C>T (p.Pro477Leu)	rs199472784
NM_000218.3(KCNQ1):c.1432C>A (p.His478Asn)
NM_000218.3(KCNQ1):c.1436T>A (p.Phe479Tyr)	rs1849965891
NM_000218.3(KCNQ1):c.1437C>A (p.Phe479Leu)	rs1849965957
NM_000218.3(KCNQ1):c.1437C>G (p.Phe479Leu)
NM_000218.3(KCNQ1):c.1439T>C (p.Met480Thr)
NM_000218.3(KCNQ1):c.1448A>G (p.Asn483Ser)	rs866469017
NM_000218.3(KCNQ1):c.1456G>C (p.Ala486Pro)	rs753256800
NM_000218.3(KCNQ1):c.1462G>A (p.Asp488Asn)	rs2133856134
NM_000218.3(KCNQ1):c.1462G>C (p.Asp488His)	rs2133856134
NM_000218.3(KCNQ1):c.1464CCTGGA[3] (p.Leu491_Glu492insAspLeu)	rs1254052516
NM_000218.3(KCNQ1):c.1481A>G (p.Glu494Gly)
NM_000218.3(KCNQ1):c.1482G>T (p.Glu494Asp)
NM_000218.3(KCNQ1):c.1487T>A (p.Leu496Gln)	rs1849967991
NM_000218.3(KCNQ1):c.1499T>C (p.Ile500Thr)
NM_000218.3(KCNQ1):c.1505A>C (p.His502Pro)

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