ClinVar Miner

List of variants reported as not provided by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_001105206.3(LAMA4):c.849= (p.Asp283=) rs9387061 0.99999
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_024422.6(DSC2):c.-298C>T rs149977713 0.01170
NM_024422.6(DSC2):c.-408T>C rs188926948 0.00141
NM_003476.5(CSRP3):c.*12G>A rs45607943 0.00108
NM_003476.4(CSRP3):c.-74A>C rs45498797 0.00092
NM_001943.5(DSG2):c.*2C>T rs183494886 0.00054
NM_001105206.3(LAMA4):c.*1C>T rs148811960 0.00048
NM_000337.5(SGCD):c.-352T>C rs727503419 0.00043
NM_002294.3(LAMP2):c.*15T>C rs376806600 0.00042
NM_001035.3(RYR2):c.3067-16_3067-15del rs727504453 0.00031
NM_001018005.2(TPM1):c.851+6C>T rs375043184 0.00029
NM_005343.4(HRAS):c.450+171C>T rs376091236 0.00025
NR_029615.1(MIR183):n.105C>A rs563046665 0.00019
NM_000337.5(SGCD):c.-404G>A rs192662989 0.00016
NM_005379.4(MYO1A):c.-11C>T rs560209125 0.00016
NM_000169.3(GLA):c.-8C>G rs371291716 0.00014
NM_000337.5(SGCD):c.-378G>T rs531296131 0.00013
NM_000337.6(SGCD):c.-59G>A rs375477247 0.00008
NM_000258.3(MYL3):c.*9C>T rs202234617 0.00006
NM_000337.6(SGCD):c.-44+11G>A rs184722381 0.00006
NM_001080476.3(GRXCR1):c.*13C>G rs368464416 0.00006
NM_020297.4(ABCC9):c.-11T>C rs72559432 0.00004
NM_170707.4(LMNA):c.1698+25C>T rs727504435 0.00004
NM_000337.6(SGCD):c.-44G>T rs727503420 0.00003
NM_016203.4(PRKAG2):c.*2C>T rs199559205 0.00003
NM_033337.3(CAV3):c.-15C>A rs569240109 0.00003
NM_006393.3(NEBL):c.*4T>A rs727504947 0.00002
NM_000337.6(SGCD):c.-41A>T rs369889635 0.00001
NM_000492.4(CFTR):c.1680-981T>C rs727502937 0.00001
NM_001943.5(DSG2):c.-15G>A rs727502982 0.00001
NM_005228.5(EGFR):c.2327G>A (p.Arg776His) rs483352806 0.00001
NM_024422.6(DSC2):c.-302C>T rs727504919 0.00001
NM_000138.5(FBN1):c.1415= (p.Tyr472=) rs113936729
NM_000138.5(FBN1):c.5066-14dup rs3833018
NM_000179.3(MSH6):c.*24_*28del rs587779200
NM_000337.5(SGCD):c.-148_-122del27 rs727504478
NM_000337.6(SGCD):c.383-33CTCTCTAT[2] rs727504998
NM_000492.4(CFTR):c.1680-871_1680-870delinsGA rs727504811
NM_000601.6(HGF):c.865+410dup rs534250947
NM_001035.3(RYR2):c.14152-16dup rs727503406
NM_001042545.2(LTBP4):c.3035dup (p.Tyr1013fs) rs59030801
NM_001105206.3(LAMA4):c.848_849= (p.Asp283=) rs71543223
NM_001267550.2(TTN):c.26762-39TTTGT[5] rs71393436
NM_001267550.2(TTN):c.37421T>C (p.Ile12474Thr) rs72650057
NM_001292063.2(OTOG):c.-14_-13delinsGA rs876657677
NM_001384474.1(LOXHD1):c.512-19TC[3] rs876657676
NM_001943.5(DSG2):c.-11G>A rs727504450
NM_002471.4(MYH6):c.3979-8del rs193922652
NM_002471.4(MYH6):c.3979-8dup rs193922652
NM_003238.6(TGFB2):c.510+12TTG[12] rs10482769
NM_003476.4(CSRP3):c.-84A>G rs727504617
NM_003476.4(CSRP3):c.-88A>G rs727502947
NM_004085.4(TIMM8A):c.-11G>T rs727503478
NM_004333.6(BRAF):c.2128-5dup rs373442098
NM_004448.4(ERBB2):c.2327G>T (p.Gly776Val) rs144434331
NM_004999.4(MYO6):c.-12CCT[1] rs727504951
NM_005228.5(EGFR):c.2236G>C (p.Glu746Gln) rs121913427
NM_005228.5(EGFR):c.2265C>G (p.Ala755=) rs727503017
NM_005343.4(HRAS):c.36C>A (p.Gly12=) rs727504424
NM_007078.3(LDB3):c.896+6669TC[13] rs71019410
NM_016599.5(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_033056.4(PCDH15):c.5358C>A (p.Ile1786=) rs727503361
NM_138691.3(TMC1):c.*15G>A rs727503489
NM_138691.3(TMC1):c.*1T>A rs727503488
NM_144672.4(OTOA):c.981-147A>G rs727505172
NM_194248.3(OTOF):c.*10CCT[1] rs779197916
NM_198999.3(SLC26A5):c.1457A>G (p.Tyr486Cys) rs727503433
NM_198999.3(SLC26A5):c.1514+1G>A rs727504481
NM_206933.4(USH2A):c.*4A>G rs530405236
NM_213569.2(NEBL):c.70-5dup rs11413698

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