ClinVar Miner

List of variants reported as likely benign for Ehlers-Danlos syndrome, dermatosparaxis type by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_014244.5(ADAMTS2):c.139+4G>A rs1023653032 0.00140
NM_014244.5(ADAMTS2):c.94C>T (p.Pro32Ser) rs547548078 0.00131
NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln) rs140022033 0.00108
NM_014244.5(ADAMTS2):c.2763C>T (p.Gly921=) rs144797464 0.00103
NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr) rs143764421 0.00102
NM_014244.5(ADAMTS2):c.1122C>T (p.Ser374=) rs145109914 0.00097
NM_014244.5(ADAMTS2):c.2865C>T (p.His955=) rs752790963 0.00092
NM_014244.5(ADAMTS2):c.1164G>A (p.Pro388=) rs141348218 0.00061
NM_014244.5(ADAMTS2):c.2272G>A (p.Ala758Thr) rs146222244 0.00054
NM_014244.5(ADAMTS2):c.984C>T (p.Ser328=) rs149253571 0.00053
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=) rs141661592 0.00030
NM_014244.5(ADAMTS2):c.2958+7A>G rs377461767 0.00027
NM_014244.5(ADAMTS2):c.3012C>T (p.Thr1004=) rs571054777 0.00026
NM_014244.5(ADAMTS2):c.588G>A (p.Lys196=) rs142721501 0.00026
NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr) rs372103269 0.00026
NM_014244.5(ADAMTS2):c.2613C>T (p.Gly871=) rs145016043 0.00023
NM_014244.5(ADAMTS2):c.2109C>T (p.Ile703=) rs200210415 0.00022
NM_014244.5(ADAMTS2):c.2271C>T (p.Asp757=) rs137875904 0.00021
NM_014244.5(ADAMTS2):c.3552G>A (p.Pro1184=) rs185794582 0.00021
NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=) rs201215425 0.00018
NM_014244.5(ADAMTS2):c.790G>A (p.Asp264Asn) rs374717566 0.00018
NM_014244.5(ADAMTS2):c.912C>T (p.Asp304=) rs147197558 0.00018
NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=) rs79606317 0.00017
NM_014244.5(ADAMTS2):c.3449A>G (p.Asn1150Ser) rs200982805 0.00016
NM_014244.5(ADAMTS2):c.161C>T (p.Ala54Val) rs368221089 0.00014
NM_014244.5(ADAMTS2):c.167G>A (p.Arg56His) rs201167346 0.00014
NM_014244.5(ADAMTS2):c.975+8C>T rs369740542 0.00014
NM_014244.5(ADAMTS2):c.3060G>A (p.Ala1020=) rs61754844 0.00013
NM_014244.5(ADAMTS2):c.651G>A (p.Thr217=) rs138580383 0.00013
NM_014244.5(ADAMTS2):c.423C>T (p.Gly141=) rs755099137 0.00010
NM_014244.5(ADAMTS2):c.814C>T (p.Leu272=) rs531768193 0.00010
NM_014244.5(ADAMTS2):c.969T>C (p.Tyr323=) rs374590440 0.00009
NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=) rs188566209 0.00007
NM_014244.5(ADAMTS2):c.1414G>A (p.Ala472Thr) rs546681307 0.00006
NM_014244.5(ADAMTS2):c.1524C>A (p.Thr508=) rs778841966 0.00006
NM_014244.5(ADAMTS2):c.2709C>T (p.Ala903=) rs763792775 0.00006
NM_014244.5(ADAMTS2):c.2866G>A (p.Ala956Thr) rs375191740 0.00006
NM_014244.5(ADAMTS2):c.723C>T (p.Arg241=) rs373732340 0.00006
NM_014244.5(ADAMTS2):c.747C>T (p.His249=) rs755476647 0.00006
NM_014244.5(ADAMTS2):c.3573A>G (p.Arg1191=) rs540177122 0.00005
NM_014244.5(ADAMTS2):c.1914C>T (p.Asp638=) rs752737484 0.00004
NM_014244.5(ADAMTS2):c.2403C>T (p.Asp801=) rs374315892 0.00004
NM_014244.5(ADAMTS2):c.762G>A (p.Arg254=) rs753246905 0.00004
NM_014244.5(ADAMTS2):c.600G>A (p.Ala200=) rs761444202 0.00003
NM_014244.5(ADAMTS2):c.1419C>T (p.His473=) rs758260638 0.00001
NM_014244.5(ADAMTS2):c.1501A>G (p.Met501Val) rs757394676 0.00001
NM_014244.5(ADAMTS2):c.1683C>T (p.Asp561=) rs368700721 0.00001
NM_014244.5(ADAMTS2):c.1848C>T (p.Pro616=) rs569510744 0.00001
NM_014244.5(ADAMTS2):c.273G>C (p.Pro91=) rs768036305 0.00001
NM_014244.5(ADAMTS2):c.312G>A (p.Glu104=) rs781264319 0.00001
NM_014244.5(ADAMTS2):c.3327G>A (p.Pro1109=) rs769116395 0.00001
NM_014244.5(ADAMTS2):c.661C>G (p.Leu221Val) rs756807336 0.00001
NM_014244.5(ADAMTS2):c.119CCG[5] (p.Ala43dup) rs1174228917
NM_014244.5(ADAMTS2):c.1746G>A (p.Lys582=) rs1763133750
NM_014244.5(ADAMTS2):c.2015G>T (p.Arg672Leu) rs200806292
NM_014244.5(ADAMTS2):c.2545C>T (p.Leu849=) rs1581140577
NM_014244.5(ADAMTS2):c.3551C>T (p.Pro1184Leu) rs150989902
NM_014244.5(ADAMTS2):c.378C>T (p.Pro126=) rs1235773868
NM_014244.5(ADAMTS2):c.42C>G (p.Pro14=) rs1581302053
NM_014244.5(ADAMTS2):c.607G>A (p.Ala203Thr) rs543859669
NM_014244.5(ADAMTS2):c.71CGC[4] (p.Pro26dup) rs763392299
NM_014244.5(ADAMTS2):c.75G>T (p.Pro25=) rs965841596
NM_014244.5(ADAMTS2):c.80_100dup (p.Leu27_Pro33dup) rs1064794627

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