ClinVar Miner

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

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Total variants: 18
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HGVS dbSNP
NM_000158.4(GBE1):c.1680C>A (p.Tyr560Ter) rs1559637815
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter)
NM_000277.3(PAH):c.618C>G (p.Tyr206Ter) rs62517201
NM_000336.3(SCNN1B):c.1688G>A (p.Arg563Gln)
NM_001110219.3(GJB6):c.322C>T (p.Arg108Ter)
NM_001110219.3(GJB6):c.487del (p.Leu163fs) rs1566538321
NM_001218.5(CA12):c.954_955TG[1] (p.Val319fs) rs757974800
NM_003242.6(TGFBR2):c.383del (p.Lys128fs) rs79375991
NM_003640.5(ELP1):c.641del (p.Pro214fs) rs759412460
NM_004360.5(CDH1):c.656del (p.Pro219fs) rs1555515284
NM_005751.4(AKAP9):c.10865G>A (p.Trp3622Ter) rs1563145763
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_024009.3(GJB3):c.703C>T (p.Arg235Ter)
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs) rs774056663
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_206933.3(USH2A):c.12151G>T (p.Glu4051Ter) rs1262416703
NM_206933.3(USH2A):c.5545_5554del (p.Ser1849fs) rs1553299022
NM_206933.3(USH2A):c.7493del (p.Ser2498fs) rs1553274448

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