ClinVar Miner

List of variants in gene combination LOC130065680, SNTA1 reported as uncertain significance by Ambry Genetics

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_003098.3(SNTA1):c.94C>A (p.Leu32Met) rs974292570 0.00006
NM_003098.3(SNTA1):c.25C>T (p.Arg9Cys) rs886039012 0.00002
NM_003098.3(SNTA1):c.112G>A (p.Asp38Asn) rs1990634022 0.00001
NM_003098.3(SNTA1):c.136G>A (p.Asp46Asn) rs1990632538 0.00001
NM_003098.3(SNTA1):c.23C>T (p.Pro8Leu) rs1216164802 0.00001
NM_003098.3(SNTA1):c.47G>C (p.Arg16Pro) rs1158625885 0.00001
NM_003098.3(SNTA1):c.70G>A (p.Gly24Ser) rs786205847 0.00001
NM_003098.3(SNTA1):c.-3_6del (p.Met1_Ala2del) rs1555822209
NM_003098.3(SNTA1):c.107C>A (p.Ala36Glu)
NM_003098.3(SNTA1):c.114C>A (p.Asp38Glu) rs780018849
NM_003098.3(SNTA1):c.122C>T (p.Thr41Ile) rs2515130441
NM_003098.3(SNTA1):c.133G>A (p.Ala45Thr) rs1990632849
NM_003098.3(SNTA1):c.142G>A (p.Asp48Asn)
NM_003098.3(SNTA1):c.19G>A (p.Ala7Thr)
NM_003098.3(SNTA1):c.59G>A (p.Gly20Asp)
NM_003098.3(SNTA1):c.67G>T (p.Ala23Ser) rs2515130712
NM_003098.3(SNTA1):c.77A>C (p.Glu26Ala) rs1234604785
NM_003098.3(SNTA1):c.77A>G (p.Glu26Gly) rs1234604785
NM_003098.3(SNTA1):c.94C>G (p.Leu32Val)
NM_003098.3(SNTA1):c.98T>C (p.Leu33Pro) rs2515130554

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