ClinVar Miner

List of variants studied for third-degree atrioventricular block

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.82240C>T (p.Arg27414Ter) rs766840243 0.00001
NM_001127208.3(TET2):c.3562A>T (p.Lys1188Ter)
NM_001267550.2(TTN):c.49287C>A (p.Asn16429Lys) rs763809932
NM_002234.4(KCNA5):c.1105_1112del (p.Phe369fs)
NM_021830.5(TWNK):c.1485-1G>A
NM_182961.4(SYNE1):c.11083G>T (p.Glu3695Ter)

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