ClinVar Miner

List of variants reported as not provided by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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ClinVar version:
Total variants: 81
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HGVS dbSNP
NM_000138.4(FBN1):c.1415= (p.Tyr472=) rs113936729
NM_000138.4(FBN1):c.5066-14dupT rs3833018
NM_000169.2(GLA):c.-8C>G rs371291716
NM_000179.2(MSH6):c.*24_*28delGTTGA rs587779200
NM_000258.2(MYL3):c.*9C>T rs202234617
NM_000337.5(SGCD):c.-148_-122del rs727504478
NM_000337.5(SGCD):c.-352T>C rs727503419
NM_000337.5(SGCD):c.-378G>T rs531296131
NM_000337.5(SGCD):c.-404G>A rs192662989
NM_000337.5(SGCD):c.-41A>T rs369889635
NM_000337.5(SGCD):c.-44+11G>A rs184722381
NM_000337.5(SGCD):c.-44G>T rs727503420
NM_000337.5(SGCD):c.-59G>A rs375477247
NM_000337.5(SGCD):c.383-33CTCTCTAT[2] rs727504998
NM_000371.3(TTR):c.424G>A (p.Val142Ile) rs76992529
NM_000492.3(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.3(CFTR):c.1680-871_1680-870delinsGA rs727504811
NM_000492.3(CFTR):c.1680-981T>C rs727502937
NM_000601.6(HGF):c.865+410dup rs534250947
NM_001018005.2(TPM1):c.851+6C>T rs375043184
NM_001035.3(RYR2):c.14152-16dup rs727503406
NM_001035.3(RYR2):c.3067-16_3067-15del rs727504453
NM_001080476.2(GRXCR1):c.*13C>G rs368464416
NM_001105206.3(LAMA4):c.*1C>T rs148811960
NM_001105206.3(LAMA4):c.848_849= (p.Asp283=) rs71543223
NM_001105206.3(LAMA4):c.849= (p.Asp283=) rs9387061
NM_001122606.1(LAMP2):c.1094-2682T>C rs376806600
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580
NM_001267550.2(TTN):c.26762-39TTTGT[5] rs71393436
NM_001267550.2(TTN):c.37421T>C (p.Ile12474Thr) rs72650057
NM_001277269.1(OTOG):c.-14_-13delinsGA rs876657677
NM_001943.5(DSG2):c.*2C>T rs183494886
NM_001943.5(DSG2):c.-11G>A rs727504450
NM_001943.5(DSG2):c.-15G>A rs727502982
NM_002458.2(MUC5B):c.-3133G>T rs35705950
NM_002471.3(MYH6):c.3979-17dup rs193922652
NM_002471.3(MYH6):c.3979-8delC rs193922652
NM_003238.5(TGFB2):c.510+12TTG[12] rs10482769
NM_003476.4(CSRP3):c.-74A>C rs45498797
NM_003476.4(CSRP3):c.-84A>G rs727504617
NM_003476.4(CSRP3):c.-88A>G rs727502947
NM_003476.5(CSRP3):c.*12G>A rs45607943
NM_003573.2(LTBP4):c.3125dup (p.Tyr1043fs) rs59030801
NM_004085.4(TIMM8A):c.-11G>T rs727503478
NM_004333.6(BRAF):c.2128-15dup rs373442098
NM_004448.3(ERBB2):c.2327G>T (p.Gly776Val) rs144434331
NM_004999.4(MYO6):c.-12_-10CCT[1] rs727504951
NM_005228.5(EGFR):c.2236G>C (p.Glu746Gln) rs121913427
NM_005228.5(EGFR):c.2265C>G (p.Ala755=) rs727503017
NM_005228.5(EGFR):c.2327G>A (p.Arg776His) rs483352806
NM_005343.4(HRAS):c.36C>A (p.Gly12=) rs727504424
NM_005343.4(HRAS):c.450+171C>T rs376091236
NM_005379.4(MYO1A):c.-11C>T rs560209125
NM_005691.3(ABCC9):c.-11T>C rs72559432
NM_006393.2(NEBL):c.*4T>A rs727504947
NM_007078.3(LDB3):c.896+6669TC[13] rs71019410
NM_016203.4(PRKAG2):c.*2C>T rs199559205
NM_016599.4(MYOZ2):c.561-14_561-13dup rs112369914
NM_022124.6(CDH23):c.1449+148_1449+149del rs727502921
NM_024422.6(DSC2):c.-222C>A rs727505136
NM_024422.6(DSC2):c.-243_-234del rs552918051
NM_024422.6(DSC2):c.-298C>T rs149977713
NM_024422.6(DSC2):c.-302C>T rs727504919
NM_024422.6(DSC2):c.-408T>C rs188926948
NM_033056.4(PCDH15):c.5358C>A (p.Ile1786=) rs727503361
NM_033337.2(CAV3):c.-15C>A rs569240109
NM_138691.2(TMC1):c.*15G>A rs727503489
NM_138691.2(TMC1):c.*1T>A rs727503488
NM_144612.6(LOXHD1):c.512-19TC[3] rs876657676
NM_144672.4(OTOA):c.981-147A>G rs727505172
NM_145343.2(APOL1):c.1072A>G (p.Ser358Gly) rs73885319
NM_145343.2(APOL1):c.1200T>G (p.Ile400Met) rs60910145
NM_145343.2(APOL1):c.1212_1217del (p.Asn404_Tyr405del) rs71785313
NM_170707.4(LMNA):c.1698+25C>T rs727504435
NM_194248.3(OTOF):c.*10_*12CCT[1] rs779197916
NM_198253.2(TERT):c.3184G>A (p.Ala1062Thr) rs35719940
NM_198999.3(SLC26A5):c.1457A>G (p.Tyr486Cys) rs727503433
NM_198999.3(SLC26A5):c.1514+1G>A rs727504481
NM_206933.3(USH2A):c.*4A>G rs530405236
NM_213569.2(NEBL):c.70-5_70-4insT rs11413698
NR_029615.1(MIR183):n.105C>A rs563046665

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