ClinVar Miner

List of variants reported as likely pathogenic by GeneID Lab - Advanced Molecular Diagnostics

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_000336.3(SCNN1B):c.1688G>A (p.Arg563Gln) rs149868979 0.00016
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter) rs750647872 0.00003
NM_001110219.3(GJB6):c.322C>T (p.Arg108Ter) rs772862268 0.00003
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs) rs774056663 0.00003
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter) rs1337679118 0.00001
NM_024009.3(GJB3):c.703C>T (p.Arg235Ter) rs144964568 0.00001
NM_206933.4(USH2A):c.12151G>T (p.Glu4051Ter) rs1262416703 0.00001
NM_000057.4(BLM):c.2851_2857del (p.Met951fs) rs1309932713
NM_000059.4(BRCA2):c.7506_7507insTCTT (p.Val2503fs) rs2137562363
NM_000135.4(FANCA):c.1509C>G (p.Tyr503Ter) rs1598136954
NM_000157.4(GBA1):c.203dup (p.Thr69fs) rs1170895261
NM_000158.4(GBE1):c.1680C>A (p.Tyr560Ter) rs1559637815
NM_000179.3(MSH6):c.1453C>T (p.Gln485Ter) rs1114167803
NM_000179.3(MSH6):c.3801+1_3801+2insGTAT rs2104547230
NM_000260.4(MYO7A):c.6252C>A (p.Tyr2084Ter) rs1957904821
NM_000277.3(PAH):c.618C>G (p.Tyr206Ter) rs62517201
NM_000335.5(SCN5A):c.5684_5685del (p.Leu1895fs) rs770059377
NM_000520.6(HEXA):c.1098T>G (p.Tyr366Ter) rs979690054
NM_001083603.3(PTCH1):c.179_180del (p.Lys60fs) rs1447209500
NM_001110219.3(GJB6):c.487del (p.Leu163fs) rs1566538321
NM_001218.5(CA12):c.956_957del (p.Val319fs) rs757974800
NM_001845.6(COL4A1):c.2337del (p.Ile780fs) rs2139165506
NM_003242.6(TGFBR2):c.383del (p.Lys128fs) rs79375991
NM_003640.5(ELP1):c.641del (p.Pro214fs) rs759412460
NM_004004.6(GJB2):c.247_249del (p.Phe83del) rs2137308192
NM_004260.4(RECQL4):c.2889del (p.Pro965fs) rs1586795973
NM_004260.4(RECQL4):c.3340C>T (p.Gln1114Ter) rs868635592
NM_004360.5(CDH1):c.656del (p.Pro219fs) rs1555515284
NM_005732.4(RAD50):c.2099_2100del (p.Asp700fs) rs2149844146
NM_005751.5(AKAP9):c.10865G>A (p.Trp3622Ter) rs1563145763
NM_022124.6(CDH23):c.6253_6254insC (p.Gly2085fs) rs2132953243
NM_022124.6(CDH23):c.6255_6256insCTCCCTTT (p.Phe2086fs) rs2132953252
NM_024675.4(PALB2):c.2585del (p.Lys862fs) rs752513498
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_183050.4(BCKDHB):c.329_330delinsAA (p.Leu110Ter) rs2127727924
NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter) rs1772735425
NM_206933.4(USH2A):c.5545_5554del (p.Ser1849fs) rs1553299022
NM_206933.4(USH2A):c.7493del (p.Ser2498fs) rs1553274448

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