ClinVar Miner

List of variants studied for Brugada syndrome by Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_000719.6(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660
NM_004980.4(KCND3):c.1756C>G (p.Leu586Val) rs778053688
NM_004982.3(KCNJ8):c.353C>T (p.Thr118Ile) rs770087869
NM_005477.2(HCN4):c.3014C>T (p.Ser1005Phe)
NM_005477.2(HCN4):c.67G>A (p.Ala23Thr)
NM_006514.3(SCN10A):c.1534C>G (p.Arg512Gly) rs200714519
NM_006514.3(SCN10A):c.3971C>T (p.Ser1324Leu)
NM_006514.3(SCN10A):c.4201_4203delTTC (p.Phe1401del)
NM_015141.3(GPD1L):c.257A>G (p.Gln86Arg)
NM_017636.3(TRPM4):c.1459_1494del36 (p.Lys487_Leu498del) rs878855029
NM_017636.3(TRPM4):c.923C>T (p.Ala308Val) rs747192078
NM_198056.2(SCN5A):c.1045G>A (p.Asp349Asn) rs779687673
NM_198056.2(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565
NM_198056.2(SCN5A):c.1066G>T (p.Asp356Tyr)
NM_198056.2(SCN5A):c.1100G>A (p.Arg367His) rs28937318
NM_198056.2(SCN5A):c.142G>A (p.Glu48Lys) rs199473048
NM_198056.2(SCN5A):c.2213A>C (p.His738Pro) rs1135401948
NM_198056.2(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171
NM_198056.2(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_198056.2(SCN5A):c.4140_4142delCAA (p.Asn1380del) rs794728922
NM_198056.2(SCN5A):c.422T>A (p.Ile141Asn) rs772186966
NM_198056.2(SCN5A):c.4312C>T (p.Pro1438Ser)
NM_198056.2(SCN5A):c.435C>A (p.Cys145Ter)
NM_198056.2(SCN5A):c.4471C>T (p.Gln1491Ter)
NM_198056.2(SCN5A):c.468G>A (p.Trp156Ter) rs1553605932
NM_198056.2(SCN5A):c.6010T>C (p.Phe2004Leu) rs41311117
NM_198056.2(SCN5A):c.6016C>G (p.Pro2006Ala) rs45489199
NM_198056.2(SCN5A):c.611+1G>A rs794728843

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