ClinVar Miner

List of variants reported as benign for Hypoparathyroidism, deafness, renal disease syndrome by Illumina Laboratory Services, Illumina

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001002295.2(GATA3):c.*612G>A rs1058240 0.81149
NM_001002295.2(GATA3):c.-251G>A rs10905277 0.42864
NM_001002295.2(GATA3):c.*517A>G rs9746 0.16747
NM_001002295.2(GATA3):c.621C>T (p.Ala207=) rs2229359 0.04922
NM_001002295.2(GATA3):c.-60C>T rs11567887 0.04369
NM_001002295.2(GATA3):c.606T>C (p.Arg202=) rs2228254 0.03693
NM_001002295.2(GATA3):c.*93C>T rs2229360 0.03683
NM_001002295.2(GATA3):c.-58C>T rs412359 0.03619
NM_001002295.2(GATA3):c.1257G>A (p.Thr419=) rs11567941 0.03143
NM_001002295.2(GATA3):c.*1066C>T rs11255509 0.02420
NM_001002295.2(GATA3):c.-49C>T rs11567942 0.01056
NM_001002295.2(GATA3):c.573C>T (p.Pro191=) rs35508267 0.00407
NM_001002295.2(GATA3):c.*987T>G rs183890714 0.00401
NM_001002295.2(GATA3):c.-48G>T rs554517990 0.00344
NM_001002295.2(GATA3):c.-359G>A rs138512915 0.00332
NM_001002295.2(GATA3):c.*491A>G rs138815232 0.00283
NM_001002295.2(GATA3):c.*664C>T rs192494656 0.00199
NM_001002295.2(GATA3):c.-69G>A rs28395794 0.00147
NM_001002295.2(GATA3):c.-264G>T rs35971003 0.00119
NM_001002295.2(GATA3):c.-95G>T rs369825935 0.00118
NM_001002295.2(GATA3):c.-351C>T rs34628951 0.00117
NM_001002295.2(GATA3):c.1179C>T (p.Asn393=) rs138679257 0.00088
NM_001002295.2(GATA3):c.*26C>G rs200946839 0.00082
NM_001002295.2(GATA3):c.*798G>A rs531077807 0.00064
NM_001002295.2(GATA3):c.737G>C (p.Gly246Ala) rs548018172 0.00021
NM_001002295.2(GATA3):c.*22G>A rs199951165 0.00019
NM_001002295.2(GATA3):c.216G>T (p.Val72=) rs560531559 0.00019
NM_001002295.2(GATA3):c.1186G>A (p.Ala396Thr) rs200935603 0.00011
NM_001002295.2(GATA3):c.241+8C>T rs376505863 0.00009
NM_001002295.2(GATA3):c.870C>T (p.Leu290=) rs575091 0.00007
NM_001002295.2(GATA3):c.840G>C (p.Thr280=) rs144796042 0.00006
NM_001002295.2(GATA3):c.-370+28del rs397846644
NM_001002295.2(GATA3):c.480C>G (p.Asp160Glu) rs143627754

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