ClinVar Miner

List of variants studied for arachnoid cyst

Included ClinVar conditions (5):
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Total variants: 18
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HGVS dbSNP
46;XY;t(2;11)(q31;q13.5)pat
NM_000090.4(COL3A1):c.509C>T (p.Ala170Val)
NM_000503.6(EYA1):c.35G>A (p.Arg12His) rs74720958
NM_000540.3(RYR1):c.2338dup (p.Val780fs)
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser) rs2229194
NM_001083961.2(WDR62):c.2728C>A (p.Leu910Met)
NM_001135599.3(TGFB2):c.440C>T (p.Pro147Leu) rs149533093
NM_001349338.3(FOXP1):c.119A>T (p.Glu40Val)
NM_002470.4(MYH3):c.3479C>T (p.Thr1160Met) rs145080512
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_005188.4(CBL):c.461T>C (p.Leu154Pro)
NM_005465.7(AKT3):c.1241A>G (p.Tyr414Cys)
NM_006017.3(PROM1):c.11T>C (p.Val4Ala)
NM_006182.4(DDR2):c.1728+6T>C
NM_015311.3(OBSL1):c.2635del (p.Cys879fs)
NM_018486.3(HDAC8):c.22G>A (p.Ala8Thr)
NM_020987.5(ANK3):c.8208A>C (p.Glu2736Asp)
NM_024757.5(EHMT1):c.592G>A (p.Val198Ile)

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