ClinVar Miner

List of variants reported as benign for capillary malformation by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
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HGVS dbSNP
NM_000020.2(ACVRL1):c.*1021T>C rs697631
NM_000020.2(ACVRL1):c.*1041G>T rs199949661
NM_000020.2(ACVRL1):c.*1042C>G rs56683171
NM_000020.2(ACVRL1):c.*1042C>T rs56683171
NM_000020.2(ACVRL1):c.*1246T>C rs706819
NM_000020.2(ACVRL1):c.*1560A>C rs80260084
NM_000020.2(ACVRL1):c.*1776C>T rs78150616
NM_000020.2(ACVRL1):c.*1926T>C rs2293094
NM_000020.2(ACVRL1):c.*2281G>T rs114323941
NM_000020.2(ACVRL1):c.*2313G>A rs61914025
NM_000020.2(ACVRL1):c.*2380C>G rs2293093
NM_000020.2(ACVRL1):c.*2398G>A rs2293092
NM_000020.2(ACVRL1):c.*2422A>G rs706820
NM_000020.2(ACVRL1):c.*423C>T rs114741844
NM_000020.2(ACVRL1):c.*499T>G rs572632343
NM_000020.2(ACVRL1):c.*560T>C rs706818
NM_000020.2(ACVRL1):c.*58G>A rs182368657
NM_000020.2(ACVRL1):c.*862G>A rs116256992
NM_000020.2(ACVRL1):c.*869C>T rs113690319
NM_000020.2(ACVRL1):c.*913C>T rs75074181
NM_000020.2(ACVRL1):c.*935G>C rs116740271
NM_000020.2(ACVRL1):c.*949C>T rs810052
NM_000020.2(ACVRL1):c.*992A>G rs567585207
NM_000020.2(ACVRL1):c.-46C>G rs190953189
NM_000020.2(ACVRL1):c.207C>T (p.Cys69=) rs56080682
NM_000020.2(ACVRL1):c.330G>A (p.Ser110=) rs77341011
NM_000020.2(ACVRL1):c.817C>T (p.Leu273=) rs55802125
NM_000020.3(ACVRL1):c.1246+9C>T rs115378744
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865
NM_000020.3(ACVRL1):c.313+11C>T rs2071218
NM_000020.3(ACVRL1):c.747G>A (p.Val249=) rs1058563
NM_000118.3(ENG):c.-115G>C rs546892762
NM_000118.3(ENG):c.-54C>A rs2296702
NM_000118.3(ENG):c.112G>A (p.Glu38Lys) rs747481834
NM_000118.3(ENG):c.1419C>T (p.Ser473=) rs561818608
NM_000118.3(ENG):c.388C>T (p.Pro130Ser) rs199840979
NM_000118.3(ENG):c.392C>T (p.Pro131Leu) rs139398993
NM_001114753.3(ENG):c.*320G>A
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669
NM_001114753.3(ENG):c.909C>T (p.Ala303=) rs200306464
NM_002890.3(RASA1):c.*1001T>C
NM_002890.3(RASA1):c.*164A>G
NM_002890.3(RASA1):c.1102+10T>C rs150779406
NM_002890.3(RASA1):c.1371G>A (p.Lys457=) rs140707293
NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys) rs145752649
NM_002890.3(RASA1):c.162G>C (p.Glu54Asp) rs201502793
NM_002890.3(RASA1):c.1777-14T>A rs36000817
NM_002890.3(RASA1):c.1777-15_1777-14insA rs202147617
NM_002890.3(RASA1):c.209A>G (p.Glu70Gly) rs146525982
NM_002890.3(RASA1):c.2286C>T (p.His762=) rs373059169
NM_002890.3(RASA1):c.2288A>T (p.Glu763Val) rs373098580
NM_002890.3(RASA1):c.360C>A (p.Pro120=) rs137878395
NM_002890.3(RASA1):c.360C>G (p.Pro120=)
NM_002890.3(RASA1):c.829-12T>A rs187379673
NM_005359.5(SMAD4):c.*5637_*5640delACAC rs368759758
NM_005359.6(SMAD4):c.*5691_*5693del rs374306389
NM_005359.6(SMAD4):c.*5863_*5867del rs78989198

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