ClinVar Miner

List of variants reported as not provided for acromelic dysplasia

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_019023.5(PRMT7):c.1056-1G>T rs201824659 0.00008
NM_014714.4(IFT140):c.4041-5G>A rs754813435 0.00003
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg) rs148076256 0.00002
NM_014694.4(ADAMTSL2):c.340G>A (p.Glu114Lys) rs113994123 0.00002
NM_000138.5(FBN1):c.8418C>G (p.Ile2806Met) rs1480715909 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val) rs539739051 0.00001
NM_019023.5(PRMT7):c.820C>T (p.Arg274Ter) rs372375423 0.00001
NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg) rs397515802
NM_000516.7(GNAS):c.432+1G>A rs1555889131
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys) rs137854532
NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=) rs387907371
NM_001130144.3(LTBP3):c.1072G>A (p.Glu358Lys) rs913431428
NM_001130144.3(LTBP3):c.2893+1G>T rs2135125210
NM_001130144.3(LTBP3):c.76CTG[9] (p.Leu35del) rs71036212
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter) rs387906692
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr) rs281875321
NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met) rs281875320
NM_014112.4(TRPS1):c.(2823+1_2824-1)_(*1_?)del
NM_014112.5(TRPS1):c.1010_1014dup (p.Cys339fs) rs1554596430
NM_014112.5(TRPS1):c.1093C>T (p.Gln365Ter) rs1554596393
NM_014112.5(TRPS1):c.1105C>T (p.Gln369Ter) rs1554596391
NM_014112.5(TRPS1):c.1176dup (p.Asn393Ter) rs1554596328
NM_014112.5(TRPS1):c.1231dup (p.Gln411fs) rs1554596300
NM_014112.5(TRPS1):c.1460del (p.Lys487fs) rs1554596193
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter) rs886040971
NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter) rs121908431
NM_014112.5(TRPS1):c.1882C>T (p.Gln628Ter) rs1554595930
NM_014112.5(TRPS1):c.2094C>A (p.Tyr698Ter) rs1554595857
NM_014112.5(TRPS1):c.2179_2180del (p.Val727fs) rs1554593099
NM_014112.5(TRPS1):c.2355_2356del (p.Lys786fs) rs1554592995
NM_014112.5(TRPS1):c.2394dup (p.Ser799fs) rs1554592981
NM_014112.5(TRPS1):c.2557C>T (p.Arg853Ter) rs121908432
NM_014112.5(TRPS1):c.2731A>T (p.Asn911Tyr) rs1554617581
NM_014112.5(TRPS1):c.2732A>G (p.Asn911Ser) rs1554617580
NM_014112.5(TRPS1):c.2756T>C (p.Leu919Pro) rs1554617573
NM_014112.5(TRPS1):c.2761C>T (p.Arg921Ter) rs751565386
NM_014112.5(TRPS1):c.2762G>A (p.Arg921Gln) rs121908435
NM_014112.5(TRPS1):c.2762G>C (p.Arg921Pro) rs121908435
NM_014112.5(TRPS1):c.2783_2784insC (p.Val929fs) rs1554617567
NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr) rs1057518972
NM_014112.5(TRPS1):c.2795C>T (p.Ala932Val) rs121908436
NM_014112.5(TRPS1):c.2801G>T (p.Gly934Val) rs1554617561
NM_014112.5(TRPS1):c.2823+1G>T rs1554617549
NM_014112.5(TRPS1):c.2824-23T>G rs752405769
NM_014112.5(TRPS1):c.2852_2859dup (p.Gly954fs) rs1554617078
NM_014112.5(TRPS1):c.2893C>T (p.Arg965Cys) rs28939069
NM_014112.5(TRPS1):c.2894G>A (p.Arg965His) rs28939070
NM_014112.5(TRPS1):c.2981_2984del (p.Glu994fs) rs1554617011
NM_014112.5(TRPS1):c.3077del (p.Ser1026fs) rs1554616971
NM_014112.5(TRPS1):c.3140del (p.Pro1047fs) rs1554616950
NM_014112.5(TRPS1):c.3424del (p.Ser1142fs) rs1554616802
NM_014694.4(ADAMTSL2):c.2431G>A (p.Gly811Arg) rs113994124
NM_014694.4(ADAMTSL2):c.2586G>A (p.Trp862Ter) rs113994125
NM_014694.4(ADAMTSL2):c.338G>A (p.Arg113His) rs113994122
NM_014694.4(ADAMTSL2):c.440C>T (p.Pro147Leu) rs113994121

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