ClinVar Miner

List of variants studied for anterior horn disorder by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (149):
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ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) rs138048706 0.00029
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val) rs63750818 0.00020
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946 0.00010
NM_205836.3(FBXO38):c.11G>A (p.Arg4Gln) rs148337492 0.00006
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser) rs369947678 0.00005
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met) rs145873635 0.00004
NM_001008212.2(OPTN):c.275A>T (p.Glu92Val) rs202044898 0.00003
NM_018834.6(MATR3):c.2038G>A (p.Asp680Asn) rs752161415 0.00002
NM_001145809.2(MYH14):c.1462G>T (p.Ala488Ser) rs887619644 0.00001
NM_003384.3(VRK1):c.398G>A (p.Arg133His) rs758978677 0.00001
NM_004082.5(DCTN1):c.59C>T (p.Ala20Val) rs773420384 0.00001
NM_006308.3(HSPB3):c.408T>A (p.Asp136Glu) rs746502208 0.00001
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp) rs797045567 0.00001
NM_016955.4(SEPSECS):c.1274A>G (p.His425Arg) rs1577598082 0.00001
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys) rs113994149 0.00001
NM_001003800.2(BICD2):c.1618C>G (p.His540Asp) rs1564060049
NM_001003800.2(BICD2):c.703A>C (p.Ile235Leu) rs1587670538
NM_001003800.2(BICD2):c.94G>C (p.Glu32Gln) rs1564076641
NM_001145809.2(MYH14):c.1979G>A (p.Gly660Asp) rs1568504395
NM_001145809.2(MYH14):c.5041G>A (p.Glu1681Lys) rs556548077
NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys) rs1064794609
NM_003334.4(UBA1):c.2830C>T (p.Arg944Cys) rs1556794074
NM_015046.7(SETX):c.3057TGA[5] (p.Asp1024del) rs572772837
NM_181503.3(EXOSC8):c.781G>T (p.Glu261Ter) rs1221939030
NM_205836.3(FBXO38):c.2075C>T (p.Pro692Leu) rs1581280139

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