ClinVar Miner

List of variants reported as likely pathogenic for integumentary system benign neoplasm

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_002253.4(KDR):c.2312C>T (p.Thr771Met) rs149745504 0.00198
NM_000094.4(COL7A1):c.1442G>A (p.Arg481His) rs147040026 0.00002
NM_000143.4(FH):c.322C>T (p.Gln108Ter) rs1060499630
NM_000421.5(KRT10):c.466C>T (p.Arg156Cys) rs58852768
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) rs28933406
NM_005343.4(HRAS):c.182A>G (p.Gln61Arg) rs121913233
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) rs104894226
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys) rs397517199
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln) rs121913287
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del) rs1724343994
NM_006218.4(PIK3CA):c.813+2T>C
NM_015922.3(NSDHL):c.1114del (p.Val372fs) rs587784222
NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu) rs1602937895
NM_015922.3(NSDHL):c.387del (p.Ile129fs)
NM_015922.3(NSDHL):c.595C>T (p.Arg199Cys) rs587784223
NM_015922.3(NSDHL):c.727G>A (p.Val243Met) rs587784224
NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu) rs121909641
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter) rs1554570813
NM_023110.3(FGFR1):c.448+1G>A rs376416531
NM_023110.3(FGFR1):c.448+1G>C rs376416531
NM_023110.3(FGFR1):c.809G>A (p.Gly270Asp) rs2150822504
NM_023110.3(FGFR1):c.821A>G (p.Glu274Gly) rs727505369
NM_033360.4(KRAS):c.64C>A (p.Gln22Lys) rs121913236
NM_181486.4(TBX5):c.253C>A (p.Pro85Thr) rs1565941579
NM_181523.3(PIK3R1):c.1699A>G (p.Lys567Glu) rs1747645807
NM_181523.3(PIK3R1):c.1732_1738delinsTGTAAGAAAG (p.Asp578_Tyr580delinsCysLysLysAsp) rs2112277098
NM_181523.3(PIK3R1):c.1735_1740del (p.Gln579_Tyr580del) rs751582616

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