ClinVar Miner

List of variants reported by Klein lab, Ludwig-Maximilians-University

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met) rs116040763 0.00011
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile) rs587777727 0.00003
NM_001013838.3(CARMIL2):c.871+1G>T rs886041044 0.00001
NM_001354930.2(RIPK1):c.1844T>C (p.Ile615Thr) rs752183065 0.00001
NM_032492.4(JAGN1):c.485A>G (p.Gln162Arg) rs587777730 0.00001
NM_032492.4(JAGN1):c.59G>A (p.Arg20Gln) rs777966677 0.00001
NM_000206.3(IL2RG):c.87del (p.Asn31fs) rs1602289943
NM_000660.7(TGFB1):c.1159T>C (p.Cys387Arg) rs1336387628
NM_000660.7(TGFB1):c.133C>T (p.Arg45Cys) rs1555755308
NM_000660.7(TGFB1):c.328C>T (p.Arg110Cys) rs1555755242
NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys) rs606231473
NM_001013838.3(CARMIL2):c.490dup (p.Ala164fs) rs886041043
NM_001354930.2(RIPK1):c.1278C>A (p.Tyr426Ter) rs374657927
NM_001354930.2(RIPK1):c.1802G>A (p.Cys601Tyr) rs1561780980
NM_001354930.2(RIPK1):c.954del (p.Met318fs) rs1561772403
NM_032492.4(JAGN1):c.130C>T (p.His44Tyr) rs587777728
NM_032492.4(JAGN1):c.297C>G (p.Tyr99Ter) rs786205705
NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del) rs587777731
NM_032492.4(JAGN1):c.40G>A (p.Gly14Ser) rs786205704
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp) rs587777729
NM_156039.3(CSF3R):c.[1245delG];[948_963del16]

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