List of variants reported as benign for congenital anomaly of cardiovascular system by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_018055.5(NODAL):c.494A>G (p.His165Arg)	rs1904589	0.56006
NM_005751.5(AKAP9):c.1389G>T (p.Met463Ile)	rs6964587	0.41920
NM_138295.5(PKD1L1):c.933T>C (p.Arg311=)	rs75505495	0.02894
NM_003098.3(SNTA1):c.807T>C (p.Asn269=)	rs73270015	0.02196
NM_138295.5(PKD1L1):c.6113C>G (p.Thr2038Ser)	rs79131011	0.01486
NM_001386795.1(DTNA):c.1903+8G>A	rs111817603	0.01438
NM_003098.3(SNTA1):c.1350C>T (p.Phe450=)	rs116747979	0.01203
NM_001386795.1(DTNA):c.1821G>A (p.Ala607=)	rs9959365	0.00984
NM_003098.3(SNTA1):c.828G>A (p.Lys276=)	rs35938843	0.00969
NM_001386795.1(DTNA):c.537G>T (p.Thr179=)	rs11877640	0.00956
NM_003098.3(SNTA1):c.555C>T (p.Val185=)	rs34995247	0.00948
NM_001386795.1(DTNA):c.2162+14G>A	rs76713874	0.00820
NM_005751.5(AKAP9):c.139C>T (p.His47Tyr)	rs35669569	0.00775
NM_003098.3(SNTA1):c.166C>T (p.Pro56Ser)	rs573772189	0.00585
NM_001386795.1(DTNA):c.210G>A (p.Leu70=)	rs117571555	0.00459
NM_001386795.1(DTNA):c.243A>G (p.Leu81=)	rs146923532	0.00285
NM_001386795.1(DTNA):c.1176-8T>C	rs41274310	0.00216
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu)	rs142401936	0.00137
NM_001386795.1(DTNA):c.604-14G>T	rs397517447	0.00123
NM_005751.5(AKAP9):c.6249C>T (p.Phe2083=)	rs139770404	0.00113
NM_005751.5(AKAP9):c.3223T>C (p.Leu1075=)	rs143712699	0.00064
NM_005751.5(AKAP9):c.3246A>G (p.Ser1082=)	rs760173622	0.00021
NM_001386795.1(DTNA):c.1744-10G>T	rs192561043
NM_138295.5(PKD1L1):c.2667G>A (p.Ser889=)
NM_147191.1(MMP21):c.486C>T (p.Tyr162=)

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