ClinVar Miner

List of variants reported by Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_032885.6(ATG4D):c.266G>A (p.Ser89Asn) rs200278873 0.00075
NM_032885.6(ATG4D):c.839A>G (p.Tyr280Cys) rs148969864 0.00063
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) rs137852959 0.00024
NM_015937.6(PIGT):c.1342C>T (p.Arg448Trp) rs527236031 0.00004
NM_020198.3(CCDC47):c.1145del (p.Leu382fs) rs750123815 0.00003
NM_001364857.2(ADGRB2):c.4393C>T (p.Arg1465Trp) rs778361520 0.00002
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met) rs137852967 0.00002
NM_022089.4(ATP13A2):c.490C>T (p.Arg164Trp) rs199624796 0.00002
NM_000124.4(ERCC6):c.543+4del rs527236039 0.00001
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu) rs527236037 0.00001
NM_001349.4(DARS1):c.839A>T (p.His280Leu) rs527236040 0.00001
NM_006302.3(MOGS):c.329G>A (p.Arg110His) rs863225089 0.00001
NM_020198.3(CCDC47):c.1189C>T (p.Arg397Ter) rs1269750663 0.00001
NM_020198.3(CCDC47):c.811C>T (p.Arg271Ter) rs749027804 0.00001
NM_000263.4(NAGLU):c.1946G>T (p.Trp649Leu) rs527236038
NM_000834.5(GRIN2B):c.1238A>G (p.Glu413Gly) rs527236034
NM_001046.3(SLC12A2):c.3076_3086del (p.Val1026fs) rs886040968
NM_001382567.1(STIM1):c.343A>T (p.Ile115Phe) rs527236030
NM_004595.5(SMS):c.443A>G (p.Gln148Arg) rs397515551
NM_004830.4(MED23):c.3638A>G (p.His1213Arg) rs527236035
NM_004830.4(MED23):c.3988C>T (p.Arg1330Ter) rs527236036
NM_014023.4(WDR37):c.356C>T (p.Ser119Phe) rs1589088690
NM_014023.4(WDR37):c.374C>T (p.Thr125Ile) rs1554823375
NM_014023.4(WDR37):c.386C>G (p.Ser129Cys) rs1589088702
NM_014023.4(WDR37):c.389C>T (p.Thr130Ile) rs1589088703
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_015937.6(PIGT):c.918_919insT (p.Val307fs) rs527236032
NM_020198.3(CCDC47):c.1165del (p.Ser389fs) rs1568246398
NM_030665.4(RAI1):c.2273G>A (p.Trp758Ter) rs527236033
NM_032885.6(ATG4D):c.1066G>A (p.Asp356Asn) rs1289649383
NM_032885.6(ATG4D):c.1310_1328del (p.Asp437fs)
Single allele

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