ClinVar Miner

List of variants in gene SPTA1 reported as uncertain significance by Invitae

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro) rs121918643 0.00019
NM_003126.4(SPTA1):c.6991A>G (p.Lys2331Glu) rs747391167 0.00006
NM_003126.4(SPTA1):c.781T>C (p.Ser261Pro) rs121918636 0.00003
NM_003126.4(SPTA1):c.2914C>A (p.Pro972Thr) rs148064417 0.00001
NM_003126.4(SPTA1):c.4140G>C (p.Leu1380Phe) rs1444515159 0.00001
NM_003126.4(SPTA1):c.5432G>A (p.Arg1811Gln) rs748672916 0.00001
NC_000001.10:g.(?_158641113)_(158646105_?)del
NM_003126.4(SPTA1):c.1085G>A (p.Arg362Lys) rs201026759
NM_003126.4(SPTA1):c.1145T>C (p.Leu382Pro)
NM_003126.4(SPTA1):c.1350+4A>C
NM_003126.4(SPTA1):c.136G>T (p.Gly46Cys)
NM_003126.4(SPTA1):c.1370A>G (p.Asn457Ser)
NM_003126.4(SPTA1):c.1406_1408del (p.His469del) rs775280006
NM_003126.4(SPTA1):c.1675G>A (p.Gly559Arg)
NM_003126.4(SPTA1):c.1747C>T (p.Leu583Phe)
NM_003126.4(SPTA1):c.1913A>C (p.Glu638Ala)
NM_003126.4(SPTA1):c.1985T>C (p.Leu662Pro)
NM_003126.4(SPTA1):c.2588-7T>A
NM_003126.4(SPTA1):c.2805+4A>T
NM_003126.4(SPTA1):c.2874_2875delinsAT (p.Arg959Trp)
NM_003126.4(SPTA1):c.3369C>G (p.Phe1123Leu)
NM_003126.4(SPTA1):c.3377A>G (p.Asp1126Gly)
NM_003126.4(SPTA1):c.3514G>T (p.Ala1172Ser)
NM_003126.4(SPTA1):c.3730G>A (p.Glu1244Lys)
NM_003126.4(SPTA1):c.376C>T (p.His126Tyr)
NM_003126.4(SPTA1):c.379G>A (p.Glu127Lys)
NM_003126.4(SPTA1):c.3841C>G (p.Arg1281Gly)
NM_003126.4(SPTA1):c.390+4T>C
NM_003126.4(SPTA1):c.3929G>T (p.Gly1310Val)
NM_003126.4(SPTA1):c.3952G>C (p.Ala1318Pro) rs2101838875
NM_003126.4(SPTA1):c.4442_4443insTCG (p.Asp1480_Arg1481insSer)
NM_003126.4(SPTA1):c.4480A>G (p.Thr1494Ala)
NM_003126.4(SPTA1):c.4517A>G (p.Tyr1506Cys)
NM_003126.4(SPTA1):c.4676T>C (p.Ile1559Thr)
NM_003126.4(SPTA1):c.4760A>G (p.Glu1587Gly)
NM_003126.4(SPTA1):c.4789A>G (p.Asn1597Asp)
NM_003126.4(SPTA1):c.4877C>A (p.Ala1626Glu)
NM_003126.4(SPTA1):c.491_505del (p.Val164_Ala168del)
NM_003126.4(SPTA1):c.4924G>A (p.Ala1642Thr)
NM_003126.4(SPTA1):c.4981-12G>A
NM_003126.4(SPTA1):c.4984G>T (p.Ala1662Ser)
NM_003126.4(SPTA1):c.5171A>G (p.Asp1724Gly)
NM_003126.4(SPTA1):c.5221T>A (p.Tyr1741Asn)
NM_003126.4(SPTA1):c.5310G>C (p.Gln1770His)
NM_003126.4(SPTA1):c.5389T>C (p.Phe1797Leu)
NM_003126.4(SPTA1):c.5531G>C (p.Arg1844Pro)
NM_003126.4(SPTA1):c.5801A>T (p.Asn1934Ile)
NM_003126.4(SPTA1):c.5834-18A>G
NM_003126.4(SPTA1):c.6228T>A (p.Asn2076Lys)
NM_003126.4(SPTA1):c.634G>A (p.Gly212Arg)
NM_003126.4(SPTA1):c.6353C>T (p.Pro2118Leu)
NM_003126.4(SPTA1):c.6417+5C>T
NM_003126.4(SPTA1):c.6422G>A (p.Arg2141Gln)
NM_003126.4(SPTA1):c.6557T>C (p.Leu2186Pro)
NM_003126.4(SPTA1):c.6860T>C (p.Leu2287Ser)
NM_003126.4(SPTA1):c.757G>C (p.Ala253Pro)

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