ClinVar Miner

List of variants reported as benign for Short-rib thoracic dysplasia 13 with or without polydactyly

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001375405.1(CEP120):c.2826T>C (p.Asp942=) rs1047438 0.71935
NM_001375405.1(CEP120):c.816C>T (p.His272=) rs6876883 0.44294
NM_001375405.1(CEP120):c.1804C>G (p.Leu602Val) rs6595440 0.39494
NM_001375405.1(CEP120):c.1431-9A>T rs3893854 0.34483
NM_001375405.1(CEP120):c.2637G>C (p.Gln879His) rs1047437 0.15997
NM_001375405.1(CEP120):c.2481+3100G>A rs1428387 0.04593
NM_001375405.1(CEP120):c.1105C>T (p.Pro369Ser) rs61747983 0.01738
NM_001375405.1(CEP120):c.1431-10_1431-9del rs1491225681 0.00803
NM_001375405.1(CEP120):c.2182A>G (p.Ser728Gly) rs61744334 0.00757
NM_001375405.1(CEP120):c.362A>G (p.Lys121Arg) rs147273517 0.00512
NM_001375405.1(CEP120):c.1112A>G (p.Lys371Arg) rs114281792 0.00421
NM_001375405.1(CEP120):c.2134C>T (p.Leu712Phe) rs114280473 0.00417
NM_001375405.1(CEP120):c.2726+14A>T rs115044327 0.00396
NM_001375405.1(CEP120):c.1256-18A>G rs371950460 0.00300
NM_001375405.1(CEP120):c.2145T>C (p.Thr715=) rs113911260 0.00294
NM_001375405.1(CEP120):c.2358+20A>G rs139462181 0.00170
NM_001375405.1(CEP120):c.810+7A>G rs376913078 0.00140
NM_001375405.1(CEP120):c.1764-6T>C rs376358503 0.00112
NM_001375405.1(CEP120):c.2358+14C>T rs114558677 0.00112
NM_001375405.1(CEP120):c.1039-19A>G rs188996721 0.00108
NM_001375405.1(CEP120):c.1671G>A (p.Leu557=) rs75289011 0.00066
NM_001375405.1(CEP120):c.1431-11_1431-9del rs776090638 0.00033
NM_001375405.1(CEP120):c.610C>A (p.Gln204Lys) rs548355953 0.00006
NM_001375405.1(CEP120):c.322-8T>C rs189324274 0.00005
NM_001375405.1(CEP120):c.1039-3del
NM_001375405.1(CEP120):c.1431-11_1431-10dup
NM_001375405.1(CEP120):c.1431-7del rs34328840
NM_001375405.1(CEP120):c.1431-9_1431-8insTTTTTTTTTTTT rs1562047830
NM_001375405.1(CEP120):c.1854A>C (p.Ser618=) rs140836572
NM_001375405.1(CEP120):c.2014-14del rs766009969
NM_001375405.1(CEP120):c.2014-14dup
NM_001375405.1(CEP120):c.2104-18_2104-13del rs76942218
NM_001375405.1(CEP120):c.2197-14G>A
NM_001375405.1(CEP120):c.2581-18= rs485847
NM_001375405.1(CEP120):c.2840G>A (p.Arg947His) rs2303720
NM_001375405.1(CEP120):c.779G>A (p.Arg260His) rs189429890

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