ClinVar Miner

List of variants reported as likely pathogenic by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

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Total variants: 16
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HGVS dbSNP
NM_000027.4(AGA):c.336del (p.Ile112fs) rs386833422
NM_000059.3(BRCA2):c.7940T>C (p.Leu2647Pro) rs80359021
NM_000170.2(GLDC):c.1055C>G (p.Thr352Arg) rs1554648060
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000527.4(LDLR):c.1549T>C (p.Ser517Pro) rs879254936
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp) rs796734066
NM_001365088.1(SLC12A6):c.2023C>T (p.Arg675Ter) rs121908428
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392
NM_020774.3(MIB1):c.2827G>T (p.Val943Phe) rs200035428
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_024422.6(DSC2):c.943-1G>A rs796756333

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