ClinVar Miner

List of variants reported as not provided by Integrated Genetics/Laboratory Corporation of America

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Total variants: 25
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HGVS dbSNP
NM_000054.6(AVPR2):c.310C>T (p.Arg104Cys) rs104894760
NM_000207.3(INS):c.127T>G (p.Cys43Gly) rs80356666
NM_000207.3(INS):c.94G>A (p.Gly32Ser) rs80356664
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783
NM_000244.3(MEN1):c.1064+9C>T rs200517349
NM_000244.3(MEN1):c.1311G>A (p.Leu437=) rs138770431
NM_000244.3(MEN1):c.507C>T (p.Ala169=) rs146759807
NM_000244.3(MEN1):c.951C>G (p.Tyr317Ter) rs386134260
NM_000352.5(ABCC8):c.394T>G (p.Phe132Val) rs80356637
NM_000451.3(SHOX):c.63C>T (p.Gly21=) rs142306835
NM_000457.4(HNF4A):c.505G>A (p.Val169Ile) rs142204928
NM_000457.4(HNF4A):c.735A>G (p.Leu245=) rs139591750
NM_000486.5(AQP2):c.439G>A (p.Ala147Thr) rs104894334
NM_000497.3(CYP11B1):c.124C>T (p.Pro42Ser) rs104894069
NM_000497.3(CYP11B1):c.281C>T (p.Pro94Leu) rs104894070
NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr) rs6472
NM_000545.6(HNF1A):c.1720= (p.Gly574=) rs1169305
NM_000545.6(HNF1A):c.1747C>G (p.Arg583Gly) rs137853239
NM_000545.6(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242
NM_000545.6(HNF1A):c.1854C>G (p.Ile618Met) rs193922591
NM_000545.6(HNF1A):c.252C>T (p.Pro84=) rs78772552
NM_000545.6(HNF1A):c.965A>G (p.Tyr322Cys) rs140491072
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321
NM_003000.2(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_005912.2(MC4R):c.110A>T (p.Asp37Val) rs13447325

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