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

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: 25

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HGVS	dbSNP	gnomAD frequency
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His)	rs199612744	0.00249
NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn)	rs112884419	0.00161
NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln)	rs200938874	0.00136
NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu)	rs115877891	0.00108
NM_003126.4(SPTA1):c.3357G>C (p.Lys1119Asn)	rs200230894	0.00098
NM_003126.4(SPTA1):c.3742C>T (p.Arg1248Trp)	rs200714808	0.00045
NM_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys)	rs143642542	0.00041
NM_003126.4(SPTA1):c.6851A>G (p.Asp2284Gly)	rs374589766	0.00021
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro)	rs121918643	0.00019
NM_003126.4(SPTA1):c.5081G>A (p.Arg1694His)	rs201822255	0.00018
NM_003126.4(SPTA1):c.3841C>T (p.Arg1281Cys)	rs199685020	0.00016
NM_003126.4(SPTA1):c.6026G>A (p.Arg2009His)	rs188580757	0.00014
NM_003126.4(SPTA1):c.4159C>T (p.Arg1387Cys)	rs372067263	0.00011
NM_003126.4(SPTA1):c.3670C>T (p.Arg1224Trp)	rs567984472	0.00009
NM_003126.4(SPTA1):c.3830G>A (p.Arg1277His)	rs201407861	0.00004
NM_003126.4(SPTA1):c.1490C>G (p.Ala497Gly)	rs199604294
NM_003126.4(SPTA1):c.1703G>A (p.Arg568His)	rs200829664
NM_003126.4(SPTA1):c.2101C>A (p.Arg701Ser)	rs201048261
NM_003126.4(SPTA1):c.3123G>A (p.Met1041Ile)	rs1308011828
NM_003126.4(SPTA1):c.3193C>T (p.Arg1065Cys)
NM_003126.4(SPTA1):c.4058C>T (p.Ala1353Val)
NM_003126.4(SPTA1):c.4484A>C (p.Lys1495Thr)	rs2101830005
NM_003126.4(SPTA1):c.6549-13G>A
NM_003126.4(SPTA1):c.6600+5G>A	rs1462060431
NM_003126.4(SPTA1):c.853C>G (p.Pro285Ala)	rs150007668

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