ClinVar Miner

List of variants reported as likely pathogenic for severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency by Counsyl

Included ClinVar conditions (2):
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000022.4(ADA):c.986C>T (p.Ala329Val) rs121908715 0.00021
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716 0.00009
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739 0.00007
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721 0.00005
NM_000022.4(ADA):c.350G>A (p.Trp117Ter) rs749484894 0.00002
NM_000022.4(ADA):c.529G>A (p.Val177Met) rs121908719 0.00002
NM_000022.4(ADA):c.704G>A (p.Arg235Gln) rs79281338 0.00002
NM_000022.4(ADA):c.218+1G>A rs528390681 0.00001
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725 0.00001
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) rs121908735 0.00001
NM_000022.4(ADA):c.467G>A (p.Arg156His) rs121908722 0.00001
NM_000022.4(ADA):c.845+1G>C rs766590645 0.00001
NM_000022.4(ADA):c.1078+2T>A rs1555843178
NM_000022.4(ADA):c.218+2T>G rs1555845120
NM_000022.4(ADA):c.219-1G>A rs751147673
NM_000022.4(ADA):c.219-2A>G rs387906267
NM_000022.4(ADA):c.383_404dup (p.Leu137fs) rs1555844616
NM_000022.4(ADA):c.396dup (p.Val133fs) rs1555844617
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) rs886041796
NM_000022.4(ADA):c.603C>G (p.Tyr201Ter) rs1555844395
NM_000022.4(ADA):c.703C>T (p.Arg235Trp) rs778809577
NM_000022.4(ADA):c.785_786insGTCTG (p.Cys262fs) rs757796081
NM_000022.4(ADA):c.790del (p.Trp264fs) rs1555844006
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745

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