List of variants in gene SPTA1 reported as likely pathogenic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 103

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HGVS	dbSNP	gnomAD frequency
NM_003126.4(SPTA1):c.6531-12C>T	rs28525570	0.25447
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val)	rs3737515	0.25425
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu)	rs7418956	0.01431
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp)	rs142775522	0.00499
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro)	rs121918643	0.00019
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro)	rs121918634	0.00006
NM_003126.4(SPTA1):c.781T>C (p.Ser261Pro)	rs121918636	0.00003
NM_003126.4(SPTA1):c.1086A>G (p.Arg362=)	rs1374378636	0.00001
NM_003126.4(SPTA1):c.137G>T (p.Gly46Val)	rs121918638	0.00001
NM_003126.4(SPTA1):c.2320C>T (p.Arg774Ter)	rs751026146	0.00001
NM_003126.4(SPTA1):c.4339-2A>C	rs368931075	0.00001
NM_003126.4(SPTA1):c.5620C>T (p.Arg1874Ter)	rs749880846	0.00001
NM_003126.4(SPTA1):c.101G>C (p.Arg34Pro)	rs567686069
NM_003126.4(SPTA1):c.1112+1G>T
NM_003126.4(SPTA1):c.1273C>T (p.Arg425Ter)
NM_003126.4(SPTA1):c.134G>C (p.Arg45Thr)
NM_003126.4(SPTA1):c.1350+1G>C
NM_003126.4(SPTA1):c.1406_1408del (p.His469del)	rs775280006
NM_003126.4(SPTA1):c.1514delinsTA (p.Gly505fs)
NM_003126.4(SPTA1):c.165dup (p.Gln56fs)	rs2101958311
NM_003126.4(SPTA1):c.1677+1G>T
NM_003126.4(SPTA1):c.1700T>C (p.Leu567Pro)
NM_003126.4(SPTA1):c.173del (p.Phe58fs)
NM_003126.4(SPTA1):c.1833+1G>A	rs1035389616
NM_003126.4(SPTA1):c.1921C>T (p.Gln641Ter)
NM_003126.4(SPTA1):c.2038+1G>A	rs199883479
NM_003126.4(SPTA1):c.2038G>A (p.Gly680Arg)	rs2101904247
NM_003126.4(SPTA1):c.2173C>T (p.Arg725Ter)	rs2101900643
NM_003126.4(SPTA1):c.2335_2351delinsGCTCTCA (p.Lys779fs)
NM_003126.4(SPTA1):c.2335_2352delinsGCTCTCA (p.Lys779fs)
NM_003126.4(SPTA1):c.2353C>T (p.Arg785Ter)	rs2022057
NM_003126.4(SPTA1):c.2386C>T (p.Gln796Ter)	rs2101892539
NM_003126.4(SPTA1):c.2464+1G>A	rs774632615
NM_003126.4(SPTA1):c.25-1G>C
NM_003126.4(SPTA1):c.2584G>T (p.Glu862Ter)
NM_003126.4(SPTA1):c.262C>T (p.Gln88Ter)	rs2101957676
NM_003126.4(SPTA1):c.2768A>G (p.Asp923Gly)
NM_003126.4(SPTA1):c.2898+2T>C
NM_003126.4(SPTA1):c.2898G>A (p.Gln966=)	rs1553232007
NM_003126.4(SPTA1):c.2938C>T (p.Gln980Ter)	rs539524312
NM_003126.4(SPTA1):c.2965_2966del (p.Gln989fs)
NM_003126.4(SPTA1):c.2980C>T (p.Arg994Ter)
NM_003126.4(SPTA1):c.3026_3027delinsGA (p.Ser1009Ter)	rs2101868872
NM_003126.4(SPTA1):c.3037-2A>G
NM_003126.4(SPTA1):c.3374del (p.Lys1125fs)
NM_003126.4(SPTA1):c.3376-1G>A
NM_003126.4(SPTA1):c.3494G>A (p.Trp1165Ter)
NM_003126.4(SPTA1):c.3664C>T (p.Gln1222Ter)
NM_003126.4(SPTA1):c.3667C>T (p.Arg1223Ter)
NM_003126.4(SPTA1):c.3730dup (p.Glu1244fs)
NM_003126.4(SPTA1):c.390+1G>A	rs2101951549
NM_003126.4(SPTA1):c.4106dup (p.Leu1370fs)
NM_003126.4(SPTA1):c.4177C>T (p.Gln1393Ter)	rs1571436535
NM_003126.4(SPTA1):c.4194+1del	rs2101837157
NM_003126.4(SPTA1):c.4295del (p.Ala1431_Leu1432insTer)
NM_003126.4(SPTA1):c.4339-1G>T
NM_003126.4(SPTA1):c.4398T>G (p.Tyr1466Ter)
NM_003126.4(SPTA1):c.4519C>T (p.Arg1507Ter)	rs1651716612
NM_003126.4(SPTA1):c.4579_4586del (p.Ser1527fs)	rs2101829513
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup)	rs757679761
NM_003126.4(SPTA1):c.461TGC[3] (p.Leu155dup)	rs749754226
NM_003126.4(SPTA1):c.4767G>A (p.Trp1589Ter)	rs2101819646
NM_003126.4(SPTA1):c.4823G>A (p.Arg1608His)
NM_003126.4(SPTA1):c.4871C>G (p.Ser1624Ter)
NM_003126.4(SPTA1):c.4del (p.Glu2fs)
NM_003126.4(SPTA1):c.5102T>A (p.Leu1701Ter)
NM_003126.4(SPTA1):c.5249del (p.Asn1750fs)
NM_003126.4(SPTA1):c.5263C>G (p.His1755Asp)	rs377659326
NM_003126.4(SPTA1):c.5269C>T (p.Arg1757Cys)
NM_003126.4(SPTA1):c.5308C>T (p.Gln1770Ter)	rs773168610
NM_003126.4(SPTA1):c.5431C>T (p.Arg1811Ter)
NM_003126.4(SPTA1):c.5566-2A>T
NM_003126.4(SPTA1):c.5581del (p.His1861fs)
NM_003126.4(SPTA1):c.5665-2A>G
NM_003126.4(SPTA1):c.570G>A (p.Trp190Ter)	rs1571530070
NM_003126.4(SPTA1):c.5833+1G>A
NM_003126.4(SPTA1):c.5944C>T (p.Gln1982Ter)
NM_003126.4(SPTA1):c.60del (p.Ala21fs)	rs1655094479
NM_003126.4(SPTA1):c.6154del (p.Ala2052fs)
NM_003126.4(SPTA1):c.6236_6264del (p.Arg2079fs)	rs2101760572
NM_003126.4(SPTA1):c.6291del (p.Asp2098fs)
NM_003126.4(SPTA1):c.6319C>T (p.Gln2107Ter)
NM_003126.4(SPTA1):c.6331del (p.Ala2111fs)
NM_003126.4(SPTA1):c.6414del (p.Ile2138fs)	rs767854151
NM_003126.4(SPTA1):c.6417G>C (p.Glu2139Asp)	rs752114200
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp)	rs41273519
NM_003126.4(SPTA1):c.6530+1G>T
NM_003126.4(SPTA1):c.6549-12G>A	rs857716
NM_003126.4(SPTA1):c.6600+5G>T	rs1462060431
NM_003126.4(SPTA1):c.660T>A (p.Tyr220Ter)	rs2101942740
NM_003126.4(SPTA1):c.6749T>A (p.Leu2250Ter)
NM_003126.4(SPTA1):c.6788+1G>A
NM_003126.4(SPTA1):c.7132C>T (p.Gln2378Ter)	rs1064795113
NM_003126.4(SPTA1):c.7134+2T>G
NM_003126.4(SPTA1):c.798dup (p.Gln267fs)
NM_003126.4(SPTA1):c.802C>T (p.Arg268Ter)
NM_003126.4(SPTA1):c.812+1G>A
NM_003126.4(SPTA1):c.836G>A (p.Trp279Ter)	rs1131691810
NM_003126.4(SPTA1):c.83G>A (p.Arg28His)	rs121918641
NM_003126.4(SPTA1):c.83G>T (p.Arg28Leu)	rs121918641
NM_003126.4(SPTA1):c.955A>T (p.Lys319Ter)
NM_003126.4(SPTA1):c.957+1G>A	rs373407146
NM_003126.4(SPTA1):c.958-1G>T

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