ClinVar Miner

List of variants reported as likely pathogenic by Kariminejad - Najmabadi Pathology & Genetics Center

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Total variants: 29
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HGVS dbSNP
NM_000080.4(CHRNE):c.1252_1267dup (p.Cys423fs) rs1597613479
NM_000089.3(COL1A2):c.596G>A (p.Gly199Asp) rs1554395833
NM_000182.5(HADHA):c.1645A>G (p.Arg549Gly) rs1574603062
NM_000182.5(HADHA):c.539C>T (p.Pro180Leu) rs1574624062
NM_000283.3(PDE6B):c.1670A>G (p.His557Arg) rs536742386
NM_000414.4(HSD17B4):c.623-1G>T rs1554064083
NM_000422.3(KRT17):c.275A>G (p.Asn92Ser) rs59151893
NM_000540.2(RYR1):c.11178_11193+7del rs1600949818
NM_001127178.3(PIGG):c.1A>G (p.Met1Val) rs1576983339
NM_001168272.1(ITPR1):c.3867C>G (p.His1289Gln) rs556943368
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_002633.3(PGM1):c.804T>A (p.Tyr268Ter) rs1302961946
NM_004281.3(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_005676.5(RBM10):c.355_358del (p.Glu119fs) rs1602556716
NM_005677.4(COLQ):c.279C>A (p.Cys93Ter) rs1575482936
NM_006158.4(NEFL):c.837G>A (p.Trp279Ter) rs1586128169
NM_012414.4(RAB3GAP2):c.961-2A>G rs771863504
NM_014629.4(ARHGEF10):c.343G>T (p.Glu115Ter) rs1585296361
NM_014874.3(MFN2):c.334G>A (p.Val112Met) rs757937208
NM_015559.3(SETBP1):c.2665C>T (p.Arg889Ter) rs1599368734
NM_018297.4(NGLY1):c.1169G>A (p.Arg390Gln) rs1135401728
NM_020771.4(HACE1):c.302C>A (p.Pro101His) rs1582771457
NM_024577.4(SH3TC2):c.1712T>C (p.Leu571Pro) rs1580900970
NM_025114.4(CEP290):c.1666dup (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.7341_7344dup (p.Ser2449fs)
NM_032193.4(RNASEH2C):c.205C>T rs78635798
NM_152906.7(TANGO2):c.605+1G>A rs372949028
NM_170707.4(LMNA):c.810G>C (p.Lys270Asn) rs267607631
NM_213653.3(HJV):c.950G>A (p.Cys317Tyr) rs1553769457

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