ClinVar Miner

List of variants reported as uncertain significance for Marshall syndrome

Included ClinVar conditions (6):
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ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.*628dup rs532806397 0.00093
NM_001854.4(COL11A1):c.-198_-195del rs886044981 0.00031
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser) rs200496207 0.00026
NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro) rs558265763 0.00008
NM_001854.4(COL11A1):c.2241+6T>C rs374197371 0.00004
NM_016580.4(PCDH12):c.1060G>A (p.Val354Ile) rs763363704 0.00004
NM_001854.4(COL11A1):c.3817-10C>A rs776718424 0.00003
NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu) rs1040168773 0.00001
NM_001854.4(COL11A1):c.3788C>T (p.Pro1263Leu) rs767905237 0.00001
NM_001854.4(COL11A1):c.4175C>T (p.Thr1392Ile) rs780411112 0.00001
NM_001854.4(COL11A1):c.4373T>C (p.Ile1458Thr) rs1651478594 0.00001
NM_001854.4(COL11A1):c.5386G>A (p.Gly1796Arg) rs925433052 0.00001
NM_001854.4(COL11A1):c.-231dup rs886044983
NM_001854.4(COL11A1):c.1351-1G>A rs1666692498
NM_001854.4(COL11A1):c.1792-39ATG[11] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[12] rs71752747
NM_001854.4(COL11A1):c.1999-10T>C rs1665243141
NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln) rs758825857
NM_001854.4(COL11A1):c.2344_2352del (p.Glu782_Gly784del) rs2101750401
NM_001854.4(COL11A1):c.2590A>C (p.Asn864His) rs1557897680
NM_001854.4(COL11A1):c.2711G>T (p.Gly904Val) rs2101679210
NM_001854.4(COL11A1):c.3375C>G (p.Asp1125Glu) rs17127270
NM_001854.4(COL11A1):c.3511G>C (p.Gly1171Arg)
NM_001854.4(COL11A1):c.3817-14_3817-13dup rs34228277
NM_001854.4(COL11A1):c.385G>A (p.Val129Ile) rs1672174219
NM_001854.4(COL11A1):c.4031C>A (p.Pro1344Gln) rs528959090
NM_001854.4(COL11A1):c.4303-13dup rs35232764
NM_001854.4(COL11A1):c.4357-16dup rs748850423
NM_001854.4(COL11A1):c.4591G>C (p.Gly1531Arg)
NM_001854.4(COL11A1):c.4859G>A (p.Gly1620Asp)
NM_001854.4(COL11A1):c.549GAA[1] (p.Lys185del) rs774335092
NM_001854.4(COL11A1):c.565C>T (p.Pro189Ser) rs201557468
NM_001854.4(COL11A1):c.652-6dup rs36076089
NM_001854.4(COL11A1):c.652-7_652-6dup rs36076089

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