ClinVar Miner

List of variants reported as uncertain significance by Kariminejad - Najmabadi Pathology & Genetics Center

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Total variants: 29
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HGVS dbSNP
NC_000021.9:g.46132536_46132539delinsACCA
NM_000083.3(CLCN1):c.774G>A (p.Glu258=)
NM_000398.7(CYB5R3):c.890G>A (p.Arg297His)
NM_001001344.2(ATP2B3):c.2314A>G (p.Thr772Ala)
NM_001080449.3(DNA2):c.940-1G>A
NM_001127221.1(CACNA1A):c.6403C>T (p.Arg2135Cys) rs121908235
NM_001130105.1(CERT1):c.223_233del (p.Arg75fs)
NM_001145026.2(PTPRQ):c.6327+1G>A
NM_001145809.2(MYH14):c.3514C>T (p.Arg1172Trp)
NM_001159699.2(FHL1):c.211C>T (p.His71Tyr)
NM_001195263.2(PDZD7):c.1088G>A (p.Trp363Ter)
NM_001267550.2(TTN):c.63535A>G (p.Ser21179Gly)
NM_001271769.2(AP3B1):c.1880A>G (p.Tyr627Cys)
NM_001346813.1(ARID1B):c.5653C>T (p.Arg1885Cys)
NM_001365999.1(SZT2):c.7613G>A (p.Cys2538Tyr) rs1553153691
NM_001999.4(FBN2):c.3521G>T (p.Cys1174Phe)
NM_002241.5(KCNJ10):c.755C>G (p.Pro252Arg)
NM_002768.5(CHMP1A):c.252+5G>T
NM_007347.5(AP4E1):c.1694C>T (p.Ala565Val) rs142762839
NM_014285.7(EXOSC2):c.673-1G>T rs1465736368
NM_016107.5(ZFR):c.2072A>C (p.His691Pro)
NM_017534.6(MYH2):c.3600G>T (p.Lys1200Asn)
NM_022068.3(PIEZO2):c.2960C>T (p.Thr987Ile)
NM_022912.3(REEP1):c.601G>A (p.Ala201Thr)
NM_031475.3(ESPN):c.910G>T (p.Asp304Tyr)
NM_133261.3(GIPC3):c.122C>A (p.Thr41Lys) rs727503062
NM_152618.3(BBS12):c.2132_*1del (p.Ter711Xaa)
NM_173660.5(DOK7):c.1457del (p.Pro486fs)
NM_176787.5(PIGN):c.377T>C (p.Leu126Pro)

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