ClinVar Miner

List of variants in gene CARMIL2 reported as pathogenic for not provided

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Gene type:
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001013838.3(CARMIL2):c.1109C>A (p.Ser370Ter) rs903777283 0.00001
NM_001013838.3(CARMIL2):c.3493C>T (p.Arg1165Ter) rs772257153 0.00001
NM_001013838.3(CARMIL2):c.520C>T (p.Arg174Ter) rs758210528 0.00001
NM_001013838.3(CARMIL2):c.882del (p.Leu295fs) rs767941878 0.00001
NM_001013838.3(CARMIL2):c.1158del (p.Cys387fs)
NM_001013838.3(CARMIL2):c.1172del (p.Gly391fs)
NM_001013838.3(CARMIL2):c.1172dup (p.Trp392fs)
NM_001013838.3(CARMIL2):c.1197G>A (p.Trp399Ter)
NM_001013838.3(CARMIL2):c.1232_1257dup (p.Leu420delinsValTer)
NM_001013838.3(CARMIL2):c.1241dup (p.Asn414fs)
NM_001013838.3(CARMIL2):c.1253dup (p.Gln419fs)
NM_001013838.3(CARMIL2):c.1352_1382del (p.Pro451fs)
NM_001013838.3(CARMIL2):c.1384_1385del (p.Arg462fs)
NM_001013838.3(CARMIL2):c.1633A>T (p.Arg545Ter)
NM_001013838.3(CARMIL2):c.1894del (p.Ala632fs)
NM_001013838.3(CARMIL2):c.2024del (p.Asn675fs)
NM_001013838.3(CARMIL2):c.2665dup (p.Arg889fs)
NM_001013838.3(CARMIL2):c.2833C>T (p.Gln945Ter)
NM_001013838.3(CARMIL2):c.3181G>T (p.Glu1061Ter)
NM_001013838.3(CARMIL2):c.3208C>T (p.Gln1070Ter)
NM_001013838.3(CARMIL2):c.3257dup (p.Ala1087fs)
NM_001013838.3(CARMIL2):c.334_337del (p.Ala112fs) rs2142909875
NM_001013838.3(CARMIL2):c.3650_3663dup (p.Val1222delinsCysArgGlyTer) rs2142950251
NM_001013838.3(CARMIL2):c.3683dup (p.Ala1229fs)
NM_001013838.3(CARMIL2):c.3727A>T (p.Lys1243Ter)
NM_001013838.3(CARMIL2):c.37C>T (p.Arg13Ter) rs534362264
NM_001013838.3(CARMIL2):c.3922C>T (p.Gln1308Ter)
NM_001013838.3(CARMIL2):c.393del (p.Thr132fs)
NM_001013838.3(CARMIL2):c.4108del (p.Ala1370fs) rs2142960311
NM_001013838.3(CARMIL2):c.4135C>T (p.Gln1379Ter)
NM_001013838.3(CARMIL2):c.448del (p.Asp150fs)
NM_001013838.3(CARMIL2):c.68_69del (p.Lys23fs)
NM_001013838.3(CARMIL2):c.787C>T (p.Arg263Ter)
NM_001013838.3(CARMIL2):c.790C>T (p.Arg264Ter)
NM_001013838.3(CARMIL2):c.818C>G (p.Ser273Ter)
NM_001013838.3(CARMIL2):c.868C>T (p.Arg290Ter)
NM_001013838.3(CARMIL2):c.887_897delinsTGTTGTCCTG (p.Ser296fs) rs2142916354
NM_001013838.3(CARMIL2):c.950dup (p.Pro318fs)
NM_001013838.3(CARMIL2):c.955C>T (p.Arg319Ter)

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