ClinVar Miner

List of variants in gene combination HBA-LCR, NPRL3 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001077350.3(NPRL3):c.1024G>T (p.Val342Leu) rs11558704 0.00258
NM_001077350.3(NPRL3):c.1516A>T (p.Asn506Tyr) rs202015937 0.00086
NM_001077350.3(NPRL3):c.1268C>T (p.Pro423Leu) rs200792895 0.00031
NM_001077350.3(NPRL3):c.442C>T (p.Arg148Cys) rs201069648 0.00029
NM_001077350.3(NPRL3):c.1107C>T (p.Ser369=) rs572375358 0.00019
NM_001077350.3(NPRL3):c.1356C>T (p.Ser452=) rs373792025 0.00016
NM_001077350.3(NPRL3):c.1197G>A (p.Gln399=) rs369473961 0.00014
NM_001077350.3(NPRL3):c.318+8T>G rs370788298 0.00010
NM_001077350.3(NPRL3):c.1162-5C>T rs768868339 0.00009
NM_001077350.3(NPRL3):c.1329C>T (p.Asn443=) rs559760517 0.00008
NM_001077350.3(NPRL3):c.275G>A (p.Arg92Gln) rs367729589 0.00007
NM_001077350.3(NPRL3):c.951G>A (p.Val317=) rs747655659 0.00006
NM_001077350.3(NPRL3):c.1085C>T (p.Pro362Leu) rs763923760 0.00005
NM_001077350.3(NPRL3):c.1252G>A (p.Glu418Lys) rs547498080 0.00005
NM_001077350.3(NPRL3):c.125C>T (p.Pro42Leu) rs762676113 0.00003
NM_001077350.3(NPRL3):c.1023C>T (p.Ser341=) rs781712669 0.00001
NM_001077350.3(NPRL3):c.1090G>A (p.Val364Ile) rs769246932 0.00001
NM_001077350.3(NPRL3):c.1112C>T (p.Pro371Leu) rs747324879 0.00001
NM_001077350.3(NPRL3):c.1170C>T (p.Leu390=) rs752646070 0.00001
NM_001077350.3(NPRL3):c.150C>G (p.Asn50Lys) rs373761767 0.00001
NM_001077350.3(NPRL3):c.152C>T (p.Thr51Met) rs777208794 0.00001
NM_001077350.3(NPRL3):c.342G>A (p.Pro114=) rs368936546 0.00001
NM_001077350.3(NPRL3):c.411A>G (p.Ser137=) rs752160458 0.00001
NM_001077350.3(NPRL3):c.579C>T (p.His193=) rs777493106 0.00001
NM_001077350.3(NPRL3):c.-67-2A>T rs2857995
NM_001077350.3(NPRL3):c.1062C>A (p.His354Gln) rs1898813434
NM_001077350.3(NPRL3):c.106G>A (p.Ala36Thr)
NM_001077350.3(NPRL3):c.1149C>G (p.Pro383=) rs577949063
NM_001077350.3(NPRL3):c.1213C>T (p.Gln405Ter) rs1898688345
NM_001077350.3(NPRL3):c.1338C>G (p.Ser446Arg) rs1555439773
NM_001077350.3(NPRL3):c.162T>A (p.His54Gln) rs1900741347
NM_001077350.3(NPRL3):c.189-1G>A rs1900184374
NM_001077350.3(NPRL3):c.189-2A>T rs1567142752
NM_001077350.3(NPRL3):c.274C>T (p.Arg92Ter) rs1199226176
NM_001077350.3(NPRL3):c.569del (p.Pro190fs)
NM_001077350.3(NPRL3):c.622T>C (p.Tyr208His) rs2141946067
NM_001077350.3(NPRL3):c.630-2A>T rs2141925510
NM_001077350.3(NPRL3):c.772_775del (p.Tyr258fs)
NM_001077350.3(NPRL3):c.921G>A (p.Leu307=)
NM_001077350.3(NPRL3):c.926T>C (p.Val309Ala) rs1898844759
NM_001077350.3(NPRL3):c.978C>A (p.Tyr326Ter)

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