List of variants reported as likely benign for acromesomelic dysplasia 3 by Invitae

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

Total variants: 81

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HGVS	dbSNP	gnomAD frequency
NM_001203.3(BMPR1B):c.418G>A (p.Val140Ile)	rs138801821	0.00280
NM_001203.3(BMPR1B):c.671G>A (p.Arg224His)	rs35973133	0.00081
NM_001203.3(BMPR1B):c.1065T>A (p.Val355=)	rs139872191	0.00064
NM_001203.3(BMPR1B):c.247-9C>T	rs199892209	0.00048
NM_001203.3(BMPR1B):c.430T>C (p.Leu144=)	rs55980670	0.00031
NM_001203.3(BMPR1B):c.300C>T (p.Asn100=)	rs140499888	0.00030
NM_001203.3(BMPR1B):c.11G>A (p.Arg4Gln)	rs150974461	0.00026
NM_001203.3(BMPR1B):c.1076+18C>T	rs376107447	0.00017
NM_001203.3(BMPR1B):c.92G>A (p.Arg31His)	rs200035802	0.00015
NM_001203.3(BMPR1B):c.523T>C (p.Ser175Pro)	rs143554488	0.00013
NM_001203.3(BMPR1B):c.1076+20A>G	rs202089229	0.00012
NM_001203.3(BMPR1B):c.909G>A (p.Lys303=)	rs373401690	0.00012
NM_001203.3(BMPR1B):c.150C>T (p.Asp50=)	rs147320212	0.00009
NM_001203.3(BMPR1B):c.251C>T (p.Thr84Ile)	rs200083866	0.00009
NM_001203.3(BMPR1B):c.1035T>G (p.Thr345=)	rs760647140	0.00008
NM_001203.3(BMPR1B):c.1367G>A (p.Arg456Gln)	rs140047318	0.00008
NM_001203.3(BMPR1B):c.1443G>A (p.Arg481=)	rs375459734	0.00007
NM_001203.3(BMPR1B):c.229T>G (p.Ser77Ala)	rs200702974	0.00006
NM_001203.3(BMPR1B):c.289A>G (p.Thr97Ala)	rs759423600	0.00006
NM_001203.3(BMPR1B):c.831A>G (p.Leu277=)	rs543232420	0.00006
NM_001203.3(BMPR1B):c.1105A>G (p.Asn369Asp)	rs778257341	0.00004
NM_001203.3(BMPR1B):c.43A>G (p.Lys15Glu)	rs1346115955	0.00004
NM_001203.3(BMPR1B):c.778+17A>G	rs373361964	0.00003
NM_001203.3(BMPR1B):c.1152C>T (p.Asp384=)	rs375476260	0.00002
NM_001203.3(BMPR1B):c.1353C>A (p.Pro451=)	rs551844397	0.00002
NM_001203.3(BMPR1B):c.147A>G (p.Thr49=)	rs756055104	0.00002
NM_001203.3(BMPR1B):c.334C>T (p.Pro112Ser)	rs1225550138	0.00002
NM_001203.3(BMPR1B):c.897A>G (p.Lys299=)	rs760837301	0.00002
NM_001203.3(BMPR1B):c.1082C>A (p.Thr361Lys)	rs1416896677	0.00001
NM_001203.3(BMPR1B):c.15T>G (p.Ser5Arg)	rs1466418430	0.00001
NM_001203.3(BMPR1B):c.18A>G (p.Ala6=)	rs536960015	0.00001
NM_001203.3(BMPR1B):c.214C>T (p.Leu72=)	rs759149974	0.00001
NM_001203.3(BMPR1B):c.358G>A (p.Asp120Asn)	rs1422671894	0.00001
NM_001203.3(BMPR1B):c.468A>G (p.Arg156=)	rs775608689	0.00001
NM_001203.3(BMPR1B):c.555C>T (p.Ser185=)	rs1243705403	0.00001
NM_001203.3(BMPR1B):c.586-9A>T	rs1034497183	0.00001
NM_001203.3(BMPR1B):c.613C>G (p.Gln205Glu)	rs766791531	0.00001
NM_001203.3(BMPR1B):c.72C>G (p.Thr24=)	rs148603233	0.00001
NM_001203.3(BMPR1B):c.771C>T (p.Asn257=)	rs763144778	0.00001
NM_001203.3(BMPR1B):c.896A>G (p.Lys299Arg)	rs773095683	0.00001
NM_001203.3(BMPR1B):c.1035T>A (p.Thr345=)	rs760647140
NM_001203.3(BMPR1B):c.1077-6C>G
NM_001203.3(BMPR1B):c.1101A>T (p.Pro367=)
NM_001203.3(BMPR1B):c.1112G>A (p.Arg371Gln)	rs34970181
NM_001203.3(BMPR1B):c.1112G>T (p.Arg371Leu)	rs34970181
NM_001203.3(BMPR1B):c.1228G>T (p.Val410Phe)
NM_001203.3(BMPR1B):c.1239A>T (p.Arg413Ser)
NM_001203.3(BMPR1B):c.1323G>A (p.Arg441=)	rs2149330585
NM_001203.3(BMPR1B):c.1347A>G (p.Leu449=)
NM_001203.3(BMPR1B):c.1365C>T (p.Asn455=)
NM_001203.3(BMPR1B):c.1384-6C>T
NM_001203.3(BMPR1B):c.1394A>G (p.Gln465Arg)
NM_001203.3(BMPR1B):c.1434T>A (p.Pro478=)	rs144080146
NM_001203.3(BMPR1B):c.1434T>C (p.Pro478=)	rs144080146
NM_001203.3(BMPR1B):c.144-17G>A	rs376913841
NM_001203.3(BMPR1B):c.1498A>G (p.Ile500Val)
NM_001203.3(BMPR1B):c.21A>G (p.Gly7=)	rs2149265435
NM_001203.3(BMPR1B):c.246+10A>T
NM_001203.3(BMPR1B):c.280G>A (p.Glu94Lys)
NM_001203.3(BMPR1B):c.291A>G (p.Thr97=)
NM_001203.3(BMPR1B):c.321C>T (p.His107=)
NM_001203.3(BMPR1B):c.349+18C>G	rs775026990
NM_001203.3(BMPR1B):c.411G>A (p.Leu137=)
NM_001203.3(BMPR1B):c.464C>A (p.Thr155Asn)
NM_001203.3(BMPR1B):c.474A>G (p.Arg158=)
NM_001203.3(BMPR1B):c.507C>T (p.Tyr169=)
NM_001203.3(BMPR1B):c.534C>T (p.Asp178=)
NM_001203.3(BMPR1B):c.543G>A (p.Glu181=)
NM_001203.3(BMPR1B):c.573C>A (p.Gly191=)
NM_001203.3(BMPR1B):c.585+18C>A
NM_001203.3(BMPR1B):c.586-19G>A
NM_001203.3(BMPR1B):c.62C>T (p.Thr21Ile)
NM_001203.3(BMPR1B):c.705C>G (p.Thr235=)	rs56083112
NM_001203.3(BMPR1B):c.74C>A (p.Pro25His)
NM_001203.3(BMPR1B):c.778+17A>C
NM_001203.3(BMPR1B):c.779-15C>G	rs1455866517
NM_001203.3(BMPR1B):c.779-6T>C	rs2149301708
NM_001203.3(BMPR1B):c.77G>A (p.Arg26His)
NM_001203.3(BMPR1B):c.786T>A (p.Ile262=)
NM_001203.3(BMPR1B):c.804G>A (p.Gly268=)	rs1733333766
NM_001203.3(BMPR1B):c.886C>T (p.Leu296=)

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