List of variants reported as benign for Ataxia-telangiectasia syndrome by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 40

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.378T>A (p.Asp126Glu)	rs2234997	0.06244
NM_000051.4(ATM):c.4578C>T (p.Pro1526=)	rs1800889	0.03196
NM_000051.4(ATM):c.1899-55T>G	rs4987951	0.03178
NM_000051.4(ATM):c.3403-15T>A	rs79701258	0.02975
NM_000051.4(ATM):c.657T>C (p.Cys219=)	rs2235003	0.02841
NM_000051.4(ATM):c.1254A>G (p.Gln418=)	rs4987943	0.02542
NM_000051.4(ATM):c.8786+8A>C	rs4986839	0.02488
NM_000051.4(ATM):c.5497-8T>C	rs3092829	0.02183
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr)	rs3092856	0.02156
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp)	rs2235000	0.01889
NM_000051.4(ATM):c.2193C>T (p.Tyr731=)	rs2229019	0.01543
NM_000051.4(ATM):c.1636C>G (p.Leu546Val)	rs2227924	0.01541
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser)	rs3218673	0.01393
NM_000051.4(ATM):c.2685A>G (p.Leu895=)	rs3218687	0.01393
NM_000051.4(ATM):c.3403-34T>A	rs148368017	0.01280
NM_000051.4(ATM):c.3118A>G (p.Met1040Val)	rs3092857	0.01233
NM_000051.4(ATM):c.3402+70A>G	rs3218671	0.01120
NM_000051.4(ATM):c.735C>T (p.Val245=)	rs3218674	0.01085
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu)	rs1800056	0.00861
NM_000051.4(ATM):c.4776+41C>T	rs114726455	0.00726
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)	rs1800054	0.00712
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro)	rs4988111	0.00660
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile)	rs1800060	0.00649
NM_000051.4(ATM):c.3994-121del	rs56013141	0.00643
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg)	rs2229020	0.00636
NM_000051.4(ATM):c.5793T>C (p.Ala1931=)	rs3092910	0.00608
NM_000051.4(ATM):c.186-7C>T	rs55674039	0.00568
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val)	rs145847315	0.00517
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)	rs1801673	0.00441
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)	rs2227922	0.00431
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr)	rs56815840	0.00424
NM_000051.4(ATM):c.1176C>G (p.Gly392=)	rs1800727	0.00388
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg)	rs641252	0.00265
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)	rs56128736	0.00186
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)	rs138327406	0.00103
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)	rs56009889	0.00035
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu)	rs3218695
NM_000051.4(ATM):c.2639-27_2639-22del	rs4987971
NM_000051.4(ATM):c.3403-13dup	rs3218681
NM_000051.4(ATM):c.3403-15dup	rs1555091083

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