ClinVar Miner

List of variants in gene combination LOC130065680, SNTA1 reported as uncertain significance for long QT syndrome

Included ClinVar conditions (78):
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Gene type:
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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_003098.3(SNTA1):c.128G>A (p.Ser43Asn) rs786205841 0.00022
NM_003098.3(SNTA1):c.40G>A (p.Glu14Lys) rs786205846 0.00014
NM_003098.2(SNTA1):c.-261C>A rs536994978 0.00010
NM_003098.2(SNTA1):c.-262C>T rs550104436 0.00010
NM_003098.2(SNTA1):c.-200C>T rs879769686 0.00009
NM_003098.3(SNTA1):c.101G>A (p.Ser34Asn) rs963277918 0.00009
NM_003098.3(SNTA1):c.25C>T (p.Arg9Cys) rs886039012 0.00002
NM_003098.3(SNTA1):c.70G>A (p.Gly24Ser) rs786205847 0.00002
NM_003098.2(SNTA1):c.-251G>A rs886056630 0.00001
NM_003098.3(SNTA1):c.-18G>A rs886056628 0.00001
NM_003098.3(SNTA1):c.23C>T (p.Pro8Leu) rs1216164802 0.00001
NM_003098.2(SNTA1):c.-186C>T rs886056629
NM_003098.3(SNTA1):c.-42G>A rs921708182
NM_003098.3(SNTA1):c.-62C>T rs1990639431
NM_003098.3(SNTA1):c.-6G>A rs1990637527
NM_003098.3(SNTA1):c.-70C>A rs930437100
NM_003098.3(SNTA1):c.-96G>C rs145471317
NM_003098.3(SNTA1):c.10G>T (p.Gly4Cys) rs1160832849
NM_003098.3(SNTA1):c.114C>A (p.Asp38Glu) rs780018849
NM_003098.3(SNTA1):c.115G>A (p.Val39Met) rs755986911
NM_003098.3(SNTA1):c.124G>T (p.Val42Leu)
NM_003098.3(SNTA1):c.130C>T (p.Pro44Ser) rs1990633233
NM_003098.3(SNTA1):c.20C>T (p.Ala7Val)
NM_003098.3(SNTA1):c.32G>T (p.Gly11Val)
NM_003098.3(SNTA1):c.47G>C (p.Arg16Pro)
NM_003098.3(SNTA1):c.49G>A (p.Ala17Thr) rs1362176861
NM_003098.3(SNTA1):c.60C>T (p.Gly20=) rs1990635539
NM_003098.3(SNTA1):c.77A>C (p.Glu26Ala) rs1234604785
NM_003098.3(SNTA1):c.77A>G (p.Glu26Gly)
NM_003098.3(SNTA1):c.89G>A (p.Arg30Gln)
NM_003098.3(SNTA1):c.94C>A (p.Leu32Met)

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