ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, cardiac valvular type

Included ClinVar conditions (11):
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.1036-14G>A rs114322680 0.00338
NM_000089.4(COL1A2):c.594+5A>T rs200744314 0.00220
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile) rs368468 0.00177
NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln) rs34147460 0.00159
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=) rs139726213 0.00120
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His) rs144797861 0.00057
NM_000089.4(COL1A2):c.1295G>A (p.Arg432Gln) rs139446305 0.00021
NM_000089.4(COL1A2):c.2645G>A (p.Arg882His) rs140368271 0.00009
NM_000089.4(COL1A2):c.1036-3T>C rs370275593 0.00007
NM_000089.4(COL1A2):c.2843G>A (p.Arg948His) rs201168934 0.00006
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His) rs377278762 0.00006
NM_000089.4(COL1A2):c.52T>C (p.Cys18Arg) rs200278401 0.00006
NM_000089.4(COL1A2):c.671G>A (p.Arg224His) rs771139732 0.00006
NM_000088.4(COL1A1):c.4067G>A (p.Arg1356His) rs149820303 0.00004
NM_000089.4(COL1A2):c.286A>G (p.Met96Val) rs763509640 0.00004
NM_000089.4(COL1A2):c.1170C>T (p.Ala390=) rs753455668 0.00002
NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser) rs749621872 0.00002
NM_000089.4(COL1A2):c.1404+1G>A rs67162110 0.00001
NM_000089.4(COL1A2):c.2140C>T (p.Arg714Cys) rs770271259 0.00001
NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr) rs538844573 0.00001
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser) rs66619856
NM_000089.4(COL1A2):c.1127G>T (p.Gly376Val) rs67543427
NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg) rs1584320605
NM_000089.4(COL1A2):c.1404+1G>C rs67162110
NM_000089.4(COL1A2):c.179G>A (p.Gly60Asp)
NM_000089.4(COL1A2):c.1937G>T (p.Gly646Val) rs72658150
NM_000089.4(COL1A2):c.2402_2403insA (p.Gly802fs)
NM_000089.4(COL1A2):c.2842C>T (p.Arg948Cys) rs779303344
NM_000089.4(COL1A2):c.293dup (p.Pro98_Arg99insTer) rs797044459
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000089.4(COL1A2):c.341A>G (p.Gln114Arg) rs2115875606
NM_000089.4(COL1A2):c.3601G>T (p.Glu1201Ter) rs72659343
NM_000089.4(COL1A2):c.368C>A (p.Pro123His) rs1791759808
NM_000089.4(COL1A2):c.432+2T>A rs2115876295
NM_000089.4(COL1A2):c.540+5G>A rs72656367
NM_000089.4(COL1A2):c.670C>T (p.Arg224Cys)
NM_000089.4(COL1A2):c.67C>T (p.Gln23Ter)
NM_000089.4(COL1A2):c.70+717A>G rs72656354
NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser) rs66612022

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