List of variants reported as likely benign for acromesomelic dysplasia 1, Maroteaux type

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 127

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HGVS	dbSNP	gnomAD frequency
NM_003995.4(NPR2):c.873+13C>A	rs61758520	0.00377
NM_003995.4(NPR2):c.64G>T (p.Ala22Ser)	rs140014632	0.00157
NM_003995.4(NPR2):c.1351+10T>C	rs199798952	0.00063
NM_003995.4(NPR2):c.1517G>A (p.Arg506His)	rs114115939	0.00047
NM_003995.4(NPR2):c.2372+18G>A	rs180773451	0.00041
NM_003995.4(NPR2):c.90G>A (p.Val30=)	rs56036598	0.00041
NM_003995.4(NPR2):c.697C>T (p.Leu233=)	rs61758518	0.00028
NM_003995.4(NPR2):c.3087A>C (p.Gly1029=)	rs138254005	0.00025
NM_003995.4(NPR2):c.2643+10A>G	rs200486126	0.00022
NM_003995.4(NPR2):c.1155C>T (p.Asn385=)	rs757184535	0.00020
NM_003995.4(NPR2):c.1572C>T (p.Tyr524=)	rs150393424	0.00017
NM_003995.4(NPR2):c.1629C>T (p.Phe543=)	rs375740003	0.00016
NM_003995.4(NPR2):c.3119G>A (p.Arg1040Gln)	rs146546770	0.00016
NM_003995.4(NPR2):c.2359C>T (p.Arg787Trp)	rs114147262	0.00013
NM_003995.4(NPR2):c.1633-10C>A	rs201550050	0.00012
NM_003995.4(NPR2):c.2105T>A (p.Met702Lys)	rs200129431	0.00010
NM_003995.4(NPR2):c.2712+16G>C	rs531827260	0.00009
NM_003995.4(NPR2):c.1815+3G>A	rs542616645	0.00007
NM_003995.4(NPR2):c.1124-7G>A	rs1008239421	0.00006
NM_003995.4(NPR2):c.1554G>A (p.Ser518=)	rs190753852	0.00006
NM_003995.4(NPR2):c.2643+7G>A	rs1024082991	0.00005
NM_003995.4(NPR2):c.2118C>T (p.Asp706=)	rs559838429	0.00004
NM_003995.4(NPR2):c.2460A>C (p.Thr820=)	rs754928680	0.00004
NM_003995.4(NPR2):c.2713-11C>T	rs577459245	0.00004
NM_003995.4(NPR2):c.2988G>A (p.Ala996=)	rs138711027	0.00004
NM_003995.4(NPR2):c.1236G>A (p.Ser412=)	rs146712937	0.00003
NM_003995.4(NPR2):c.2721G>A (p.Thr907=)	rs758549770	0.00003
NM_003995.4(NPR2):c.7C>T (p.Leu3=)	rs1453764250	0.00003
NM_003995.4(NPR2):c.1711-9T>G	rs777590147	0.00002
NM_003995.4(NPR2):c.2047+11C>T	rs200583592	0.00002
NM_003995.4(NPR2):c.2048-16G>A	rs747238989	0.00002
NM_003995.4(NPR2):c.2407C>T (p.Leu803=)	rs1311519190	0.00002
NM_003995.4(NPR2):c.2895C>A (p.Val965=)	rs1011740301	0.00002
NM_003995.4(NPR2):c.342C>T (p.His114=)	rs747247133	0.00002
NM_003995.4(NPR2):c.649A>T (p.Ile217Phe)	rs191155989	0.00002
NM_003995.4(NPR2):c.897A>T (p.Arg299=)	rs1200672963	0.00002
NM_003995.4(NPR2):c.966T>C (p.Gly322=)	rs746736321	0.00002
NM_003995.4(NPR2):c.1209G>A (p.Gly403=)	rs1049826543	0.00001
NM_003995.4(NPR2):c.1215T>C (p.Phe405=)	rs974678534	0.00001
NM_003995.4(NPR2):c.1227C>T (p.Ala409=)	rs775340388	0.00001
NM_003995.4(NPR2):c.1575C>A (p.Gly525=)	rs753525337	0.00001
NM_003995.4(NPR2):c.1650C>T (p.Ile550=)	rs369022842	0.00001
NM_003995.4(NPR2):c.1887+11C>G	rs761623564	0.00001
NM_003995.4(NPR2):c.2281C>T (p.Leu761=)	rs1481862376	0.00001
NM_003995.4(NPR2):c.2337T>C (p.Phe779=)	rs115369552	0.00001
NM_003995.4(NPR2):c.2372+14A>T	rs1367655962	0.00001
NM_003995.4(NPR2):c.2472G>A (p.Leu824=)	rs1020460919	0.00001
NM_003995.4(NPR2):c.2754C>A (p.Leu918=)	rs372891937	0.00001
NM_003995.4(NPR2):c.2987-12C>T	rs529155438	0.00001
NM_003995.4(NPR2):c.3078+16G>T	rs760800240	0.00001
NM_003995.4(NPR2):c.36C>T (p.Ala12=)	rs751273128	0.00001
NM_003995.4(NPR2):c.471C>T (p.His157=)	rs140924915	0.00001
NM_003995.4(NPR2):c.873+8T>C	rs949975649	0.00001
NM_003995.4(NPR2):c.1038A>G (p.Glu346=)	rs1828088519
NM_003995.4(NPR2):c.1059G>A (p.Gln353=)
NM_003995.4(NPR2):c.1123+18A>G
NM_003995.4(NPR2):c.1124-11T>G
NM_003995.4(NPR2):c.1173C>T (p.Asp391=)
NM_003995.4(NPR2):c.1219-5T>C
NM_003995.4(NPR2):c.1227C>G (p.Ala409=)
NM_003995.4(NPR2):c.1251G>A (p.Gln417=)
NM_003995.4(NPR2):c.1263G>A (p.Thr421=)
NM_003995.4(NPR2):c.1352-13A>G	rs767710196
NM_003995.4(NPR2):c.1365C>A (p.Thr455=)
NM_003995.4(NPR2):c.1380T>A (p.Ala460=)
NM_003995.4(NPR2):c.1436+9T>G
NM_003995.4(NPR2):c.1557+17G>A
NM_003995.4(NPR2):c.1558-18T>C
NM_003995.4(NPR2):c.1558-6C>G
NM_003995.4(NPR2):c.1614C>T (p.Ala538=)
NM_003995.4(NPR2):c.1632+10C>T
NM_003995.4(NPR2):c.1633-13C>T
NM_003995.4(NPR2):c.1710+16_1710+19dup	rs549843346
NM_003995.4(NPR2):c.1711-15G>T
NM_003995.4(NPR2):c.171C>A (p.Gly57=)
NM_003995.4(NPR2):c.1866A>T (p.Ser622=)
NM_003995.4(NPR2):c.1923G>A (p.Ser641=)
NM_003995.4(NPR2):c.1956G>T (p.Val652=)	rs769661213
NM_003995.4(NPR2):c.1992C>G (p.Gly664=)
NM_003995.4(NPR2):c.2047+12C>T
NM_003995.4(NPR2):c.2048-11C>T
NM_003995.4(NPR2):c.2076C>T (p.Leu692=)
NM_003995.4(NPR2):c.2268A>G (p.Gln756=)
NM_003995.4(NPR2):c.2343G>A (p.Gln781=)
NM_003995.4(NPR2):c.2406G>C (p.Leu802=)	rs1226263208
NM_003995.4(NPR2):c.2412C>T (p.Arg804=)	rs2132092445
NM_003995.4(NPR2):c.2519+14C>T
NM_003995.4(NPR2):c.2520-7_2520-6del
NM_003995.4(NPR2):c.2535G>A (p.Gln845=)
NM_003995.4(NPR2):c.2577T>C (p.Ser859=)
NM_003995.4(NPR2):c.2634C>A (p.Thr878=)	rs1588069140
NM_003995.4(NPR2):c.2643+20G>A
NM_003995.4(NPR2):c.2712+12G>A
NM_003995.4(NPR2):c.2712+9T>G
NM_003995.4(NPR2):c.2751C>A (p.Gly917=)
NM_003995.4(NPR2):c.276C>T (p.Asp92=)
NM_003995.4(NPR2):c.2778T>C (p.His926=)
NM_003995.4(NPR2):c.2835C>T (p.Arg945=)
NM_003995.4(NPR2):c.2887+19C>T
NM_003995.4(NPR2):c.2931T>C (p.Tyr977=)
NM_003995.4(NPR2):c.2986+10T>A
NM_003995.4(NPR2):c.2987-11A>G	rs1041371919
NM_003995.4(NPR2):c.3015C>G (p.Thr1005=)
NM_003995.4(NPR2):c.3034C>T (p.Leu1012=)	rs772856710
NM_003995.4(NPR2):c.3078+14A>G
NM_003995.4(NPR2):c.3078+17G>A	rs1828616559
NM_003995.4(NPR2):c.3079-10C>A	rs2132104467
NM_003995.4(NPR2):c.309C>T (p.Tyr103=)
NM_003995.4(NPR2):c.3102C>T (p.Tyr1034=)	rs985223475
NM_003995.4(NPR2):c.354C>G (p.Pro118=)
NM_003995.4(NPR2):c.366G>A (p.Ala122=)	rs549842668
NM_003995.4(NPR2):c.477C>T (p.His159=)	rs1554671925
NM_003995.4(NPR2):c.552C>T (p.Ile184=)	rs771425603
NM_003995.4(NPR2):c.60C>T (p.Pro20=)
NM_003995.4(NPR2):c.636G>A (p.Gln212=)
NM_003995.4(NPR2):c.63G>A (p.Gly21=)
NM_003995.4(NPR2):c.667+11C>A	rs1477695310
NM_003995.4(NPR2):c.681C>T (p.Cys227=)
NM_003995.4(NPR2):c.804T>C (p.Arg268=)
NM_003995.4(NPR2):c.855C>G (p.Ala285=)
NM_003995.4(NPR2):c.873+10G>C
NM_003995.4(NPR2):c.880T>C (p.Leu294=)	rs1303946040
NM_003995.4(NPR2):c.987+10T>A	rs547211547
NM_003995.4(NPR2):c.987+9A>T
NM_003995.4(NPR2):c.988-4C>G
NM_003995.4(NPR2):c.988-7C>A	rs555614149
NM_003995.4(NPR2):c.9G>A (p.Leu3=)	rs1827810585

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