ClinVar Miner

List of variants reported as likely pathogenic by Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital

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Total variants: 45
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HGVS dbSNP
NM_000090.4(COL3A1):c.862G>T (p.Gly288Cys)
NM_000348.4(SRD5A2):c.317del (p.Pro106fs)
NM_000488.3(SERPINC1):c.655A>G (p.Asn219Asp) rs121909571
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000540.3(RYR1):c.14701G>A (p.Glu4901Lys)
NM_000719.7(CACNA1C):c.722T>C (p.Val241Ala)
NM_000814.6(GABRB3):c.173-2A>T
NM_001080517.3(SETD5):c.941A>G (p.Asn314Ser)
NM_001101.5(ACTB):c.491C>A (p.Pro164His)
NM_001111125.3(IQSEC2):c.2507C>T (p.Ala836Val) rs782099475
NM_001111125.3(IQSEC2):c.3817C>T (p.Gln1273Ter) rs1569291699
NM_001172509.2(SATB2):c.1298A>C (p.Tyr433Ser)
NM_001271.4(CHD2):c.789dup (p.Glu264Ter)
NM_001347721.2(DYRK1A):c.638-9_638-5del rs1555984064
NM_001374258.1(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_001854.4(COL11A1):c.1168G>T (p.Glu390Ter)
NM_002582.4(PARN):c.448C>T (p.Arg150Cys)
NM_002641.3(PIGA):c.368C>T (p.Thr123Met) rs1555945480
NM_002641.4(PIGA):c.1355A>T (p.Asp452Val)
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652
NM_004333.6(BRAF):c.1388_1408dup (p.Ile463_Gly469dup) rs1562956929
NM_004380.3(CREBBP):c.4262G>T (p.Cys1421Phe)
NM_004380.3(CREBBP):c.5357G>A (p.Arg1786His)
NM_004586.3(RPS6KA3):c.340C>T (p.Arg114Trp) rs122454127
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter) rs886041126
NM_005249.5(FOXG1):c.653A>G (p.Tyr218Cys)
NM_005691.3(ABCC9):c.3346C>T (p.Arg1116Cys) rs387907228
NM_006772.3(SYNGAP1):c.3406C>T (p.Gln1136Ter)
NM_015474.3(SAMHD1):c.1343T>C (p.Ile448Thr) rs774964432
NM_017617.5(NOTCH1):c.4758_4759insCA (p.Asn1587fs)
NM_017780.4(CHD7):c.378C>A (p.Tyr126Ter) rs1563559596
NM_018082.6(POLR3B):c.2302C>T (p.Arg768Cys)
NM_024665.6(TBL1XR1):c.689C>T (p.Ser230Phe) rs1553815393
NM_024757.5(EHMT1):c.870dup (p.Arg291fs)
NM_024818.5(UBA5):c.215G>A (p.Arg72His) rs150313260
NM_025152.3(NUBPL):c.815-27T>C rs118161496
NM_030973.3(MED25):c.316G>A (p.Gly106Arg) rs535472885
NM_030973.4(MED25):c.1628_1637del (p.Asn543fs)
NM_033337.3(CAV3):c.299T>A (p.Ile100Asn)
NM_080647.1(TBX1):c.476T>C (p.Leu159Pro)
NM_139058.3(ARX):c.1444G>A (p.Gly482Ser) rs1468724042
NM_152641.4(ARID2):c.3927_3928del (p.Gly1310fs) rs1592121202
NM_182916.3(TRNT1):c.1057-7C>G rs368078167
NM_182916.3(TRNT1):c.1246A>G (p.Lys416Glu)
t(3;9)(q13.31;p24.1)

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