ClinVar Miner

List of variants reported as uncertain significance for Floating-Harbor syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_006662.3(SRCAP):c.2648C>G (p.Ala883Gly) rs139524110 0.00019
NM_006662.3(SRCAP):c.4120C>T (p.Leu1374Phe) rs777744269 0.00014
NM_006662.3(SRCAP):c.2897G>A (p.Arg966Gln) rs186883352 0.00012
NM_006662.3(SRCAP):c.8798C>T (p.Pro2933Leu) rs368577129 0.00011
NM_006662.3(SRCAP):c.5404G>A (p.Ala1802Thr) rs978664247 0.00008
NM_006662.3(SRCAP):c.3481G>A (p.Ala1161Thr) rs374725943 0.00007
NM_006662.3(SRCAP):c.5707C>T (p.Arg1903Trp) rs74015039 0.00007
NM_006662.3(SRCAP):c.4355C>T (p.Ser1452Leu) rs200175704 0.00006
NM_006662.3(SRCAP):c.3254T>C (p.Val1085Ala) rs200083101 0.00005
NM_006662.3(SRCAP):c.5477C>T (p.Ser1826Leu) rs374858506 0.00005
NM_006662.3(SRCAP):c.1073A>G (p.Asp358Gly) rs778737366 0.00004
NM_006662.3(SRCAP):c.2651C>T (p.Thr884Ile) rs748447295 0.00004
NM_006662.3(SRCAP):c.492+3A>G rs766539368 0.00004
NM_006662.3(SRCAP):c.5612G>A (p.Arg1871Gln) rs375163006 0.00004
NM_006662.3(SRCAP):c.62C>T (p.Ser21Leu) rs183497403 0.00004
NM_006662.3(SRCAP):c.8405C>T (p.Ser2802Phe) rs376510159 0.00004
NM_006662.3(SRCAP):c.9497A>T (p.Glu3166Val) rs530672259 0.00004
NM_006662.3(SRCAP):c.316A>G (p.Ile106Val) rs777066101 0.00003
NM_006662.3(SRCAP):c.3721C>T (p.Leu1241Phe) rs202233790 0.00003
NM_006662.3(SRCAP):c.4588A>G (p.Thr1530Ala) rs181190579 0.00003
NM_006662.3(SRCAP):c.8989A>G (p.Thr2997Ala) rs138111804 0.00003
NM_006662.3(SRCAP):c.5518C>T (p.Arg1840Trp) rs531238169 0.00002
NM_006662.3(SRCAP):c.7352C>T (p.Pro2451Leu) rs759342420 0.00002
NM_006662.3(SRCAP):c.7744C>G (p.Pro2582Ala) rs1226947726 0.00002
NM_006662.3(SRCAP):c.1279G>A (p.Val427Met) rs140083344 0.00001
NM_006662.3(SRCAP):c.1611G>C (p.Gln537His) rs771334638 0.00001
NM_006662.3(SRCAP):c.2130+6A>T rs894326862 0.00001
NM_006662.3(SRCAP):c.2402G>A (p.Arg801His) rs1368368027 0.00001
NM_006662.3(SRCAP):c.278A>G (p.His93Arg) rs555507140 0.00001
NM_006662.3(SRCAP):c.3050C>T (p.Ala1017Val) rs767714019 0.00001
NM_006662.3(SRCAP):c.3587G>A (p.Arg1196His) rs754130604 0.00001
NM_006662.3(SRCAP):c.4723C>T (p.Pro1575Ser) rs143556666 0.00001
NM_006662.3(SRCAP):c.5150C>T (p.Ser1717Leu) rs1402428342 0.00001
NM_006662.3(SRCAP):c.5282G>C (p.Gly1761Ala) rs767130314 0.00001
NM_006662.3(SRCAP):c.6050G>A (p.Arg2017Gln) rs754274438 0.00001
NM_006662.3(SRCAP):c.6157C>T (p.Arg2053Trp) rs371915992 0.00001
NM_006662.3(SRCAP):c.8414T>C (p.Ile2805Thr) rs753836409 0.00001
NM_006662.3(SRCAP):c.8693C>G (p.Pro2898Arg) rs770109840 0.00001
NM_006662.3(SRCAP):c.9193C>T (p.Arg3065Cys) rs760273993 0.00001
NM_006662.3(SRCAP):c.*342del rs886051909
NM_006662.3(SRCAP):c.*358del rs397854666
NM_006662.3(SRCAP):c.1220A>T (p.Glu407Val) rs781392583
NM_006662.3(SRCAP):c.1429T>A (p.Cys477Ser) rs1596647170
NM_006662.3(SRCAP):c.1693G>A (p.Asp565Asn) rs2151288555
NM_006662.3(SRCAP):c.196G>A (p.Gly66Ser) rs2052801296
NM_006662.3(SRCAP):c.2125C>T (p.Arg709Trp) rs760183638
NM_006662.3(SRCAP):c.2300+10dup rs557150142
NM_006662.3(SRCAP):c.2816A>G (p.Gln939Arg) rs1025929747
NM_006662.3(SRCAP):c.2956C>T (p.Arg986Trp) rs2052998876
NM_006662.3(SRCAP):c.2990T>C (p.Met997Thr)
NM_006662.3(SRCAP):c.3025G>C (p.Val1009Leu) rs982570410
NM_006662.3(SRCAP):c.3179T>G (p.Leu1060Arg) rs2053005047
NM_006662.3(SRCAP):c.3287C>A (p.Thr1096Asn) rs1423358122
NM_006662.3(SRCAP):c.4105A>T (p.Thr1369Ser) rs751529827
NM_006662.3(SRCAP):c.4243A>C (p.Met1415Leu) rs140379834
NM_006662.3(SRCAP):c.4243dup (p.Met1415fs) rs2151293947
NM_006662.3(SRCAP):c.4429A>G (p.Thr1477Ala)
NM_006662.3(SRCAP):c.4471C>T (p.Pro1491Ser) rs780593546
NM_006662.3(SRCAP):c.4557_4560del (p.Gln1519fs) rs1567248015
NM_006662.3(SRCAP):c.5216C>T (p.Pro1739Leu) rs757626317
NM_006662.3(SRCAP):c.5470G>A (p.Val1824Met)
NM_006662.3(SRCAP):c.5594C>T (p.Thr1865Ile)
NM_006662.3(SRCAP):c.5704G>A (p.Glu1902Lys) rs1019525148
NM_006662.3(SRCAP):c.5813C>G (p.Pro1938Arg) rs2053089774
NM_006662.3(SRCAP):c.5850_5851insATT (p.Thr1950_Tyr1951insIle) rs767382265
NM_006662.3(SRCAP):c.6710A>C (p.Gln2237Pro)
NM_006662.3(SRCAP):c.6729+9dup rs770423372
NM_006662.3(SRCAP):c.7409C>A (p.Ala2470Asp)
NM_006662.3(SRCAP):c.7520C>T (p.Pro2507Leu) rs2053173193
NM_006662.3(SRCAP):c.7681C>G (p.Pro2561Ala) rs1215921344
NM_006662.3(SRCAP):c.7722CTC[1] (p.Ser2576del) rs797046007
NM_006662.3(SRCAP):c.8303G>T (p.Arg2768Leu)
NM_006662.3(SRCAP):c.9044C>T (p.Pro3015Leu) rs1567254950
NM_006662.3(SRCAP):c.9490G>A (p.Gly3164Arg)
NM_006662.3(SRCAP):c.954G>T (p.Arg318Ser) rs2052869442
NM_014284.3(NCDN):c.217C>T (p.Arg73Trp)

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