ClinVar Miner

List of variants reported as benign for Neonatal severe hyperparathyroidism by Illumina Clinical Services Laboratory,Illumina

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Total variants: 15
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HGVS dbSNP
NM_000388.4(CASR):c.*1015A>G rs9740
NM_000388.4(CASR):c.*1093C>T rs1802757
NM_000388.4(CASR):c.*1198T>C rs10190
NM_000388.4(CASR):c.*1235A>G rs34042920
NM_000388.4(CASR):c.*188dup rs33974189
NM_000388.4(CASR):c.*574C>G rs6438718
NM_000388.4(CASR):c.*60A>T rs4677948
NM_000388.4(CASR):c.*87C>T rs202045621
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala) rs12493789
NM_000388.4(CASR):c.1775A>G (p.Asn592Ser) rs117375173
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725
NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) rs1042636
NM_000388.4(CASR):c.573G>A (p.Glu191=) rs141631116
NM_000388.4(CASR):c.78C>G (p.Ala26=) rs77852524

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