ClinVar Miner

List of variants studied for atrial fibrillation by Baylor Genetics

Included ClinVar conditions (51):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.6004G>A (p.Asp2002Asn) rs376697724 0.00004
NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys) rs199472737 0.00002
NM_004588.5(SCN2B):c.44C>T (p.Thr15Met) rs201373014 0.00002
NM_000335.5(SCN5A):c.1700T>A (p.Leu567Gln) rs199473124 0.00001
NM_020297.4(ABCC9):c.3283C>T (p.Arg1095Cys) rs752450127 0.00001
NM_153485.3(NUP155):c.3226C>T (p.Arg1076Cys) rs376467373 0.00001
GRCh37/hg19 1q21.2(chr1:147245049-147246661)
NM_000335.5(SCN5A):c.4780G>A (p.Asp1594Asn) rs137854607
NM_000891.3(KCNJ2):c.896A>G (p.Glu299Gly) rs786205817
NM_006172.4(NPPA):c.118T>C (p.Phe40Leu) rs1645078375
NM_020297.4(ABCC9):c.2928_2929dup (p.Met977fs) rs1565731854
NM_020297.4(ABCC9):c.4512+746_4512+747insT rs761784169

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