ClinVar Miner

List of variants in gene combination ENG, LOC102723566 reported as benign for capillary malformation

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000118.3(ENG):c.1135-7G>A rs201359896
NM_000118.3(ENG):c.1233C>T (p.Ser411=) rs137870512
NM_000118.3(ENG):c.1374A>G (p.Pro458=) rs34828244
NM_000118.3(ENG):c.1407G>A (p.Pro469=) rs41302657
NM_000118.3(ENG):c.1419C>T (p.Ser473=) rs561818608
NM_000118.3(ENG):c.1429-9_1429-6dup rs762494923
NM_000118.3(ENG):c.1452C>T (p.Ser484=) rs115450389
NM_000118.3(ENG):c.1455G>A (p.Glu485=) rs150456852
NM_000118.3(ENG):c.1510G>A (p.Val504Met) rs116330805
NM_000118.3(ENG):c.1533G>A (p.Ala511=) rs140760635
NM_000118.3(ENG):c.1687-117G>A rs1330684
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669

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