ClinVar Miner

List of variants reported as likely benign for Nance-Horan syndrome

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Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_001291867.2(NHS):c.739C>T (p.Arg247Cys) rs369785842 0.00016
NM_001291867.2(NHS):c.1723A>G (p.Lys575Glu) rs199789055 0.00015
NM_001291867.2(NHS):c.2709C>T (p.Asn903=) rs771010114 0.00010
NM_001291867.2(NHS):c.1163C>T (p.Ser388Leu) rs150689121 0.00009
NM_001291867.2(NHS):c.2690C>T (p.Thr897Met) rs138975293 0.00008
NM_001291867.2(NHS):c.3786G>A (p.Thr1262=) rs150235442 0.00007
NM_001291867.2(NHS):c.1327G>A (p.Gly443Arg) rs371229391 0.00006
NM_001291867.2(NHS):c.1835C>T (p.Thr612Met) rs745597127 0.00006
NM_001291867.2(NHS):c.190C>T (p.Pro64Ser) rs907290988 0.00006
NM_001291867.2(NHS):c.2909C>T (p.Thr970Met) rs373464879 0.00006
NM_001291867.2(NHS):c.2721C>T (p.Pro907=) rs144363282 0.00005
NM_001291867.2(NHS):c.4871C>T (p.Thr1624Met) rs367919114 0.00005
NM_001291867.2(NHS):c.966G>A (p.Pro322=) rs745327335 0.00005
NM_001291867.2(NHS):c.1246G>C (p.Asp416His) rs748064561 0.00004
NM_001291867.2(NHS):c.2820C>T (p.Ala940=) rs934576891 0.00004
NM_001291867.2(NHS):c.3351C>T (p.Asn1117=) rs1329209355 0.00004
NM_001291867.2(NHS):c.1469G>T (p.Gly490Val) rs775816596 0.00003
NM_001291867.2(NHS):c.366G>A (p.Leu122=) rs777054929 0.00003
NM_001291867.2(NHS):c.4083G>A (p.Ser1361=) rs142564431 0.00003
NM_001291867.2(NHS):c.4860G>C (p.Arg1620=) rs761212213 0.00003
NM_001291867.2(NHS):c.610C>T (p.Arg204Cys) rs746772731 0.00003
NM_001291867.2(NHS):c.718+13G>A rs753235773 0.00003
NM_001291867.2(NHS):c.839G>A (p.Arg280His) rs757838540 0.00003
NM_001291867.2(NHS):c.1109-18C>A rs1422901444 0.00002
NM_001291867.2(NHS):c.1566C>T (p.Gly522=) rs777505360 0.00002
NM_001291867.2(NHS):c.2887C>T (p.Leu963=) rs757651281 0.00002
NM_001291867.2(NHS):c.3093G>A (p.Thr1031=) rs1157246576 0.00002
NM_001291867.2(NHS):c.3314G>A (p.Arg1105His) rs749270448 0.00002
NM_001291867.2(NHS):c.4263T>C (p.Ser1421=) rs915744555 0.00002
NM_001291867.2(NHS):c.1041G>A (p.Thr347=) rs776382788 0.00001
NM_001291867.2(NHS):c.1120G>A (p.Asp374Asn) rs749657664 0.00001
NM_001291867.2(NHS):c.1131T>A (p.Ala377=) rs2066427701 0.00001
NM_001291867.2(NHS):c.1203C>T (p.Thr401=) rs752791692 0.00001
NM_001291867.2(NHS):c.1647A>G (p.Pro549=) rs984203417 0.00001
NM_001291867.2(NHS):c.1656G>A (p.Pro552=) rs763470722 0.00001
NM_001291867.2(NHS):c.1824C>T (p.His608=) rs749407804 0.00001
NM_001291867.2(NHS):c.197G>C (p.Gly66Ala) rs1473075796 0.00001
NM_001291867.2(NHS):c.2277T>C (p.Tyr759=) rs1323986389 0.00001
NM_001291867.2(NHS):c.3375G>A (p.Ser1125=) rs770275833 0.00001
NM_001291867.2(NHS):c.3387G>A (p.Pro1129=) rs2066455694 0.00001
NM_001291867.2(NHS):c.3407C>T (p.Thr1136Met) rs763238998 0.00001
NM_001291867.2(NHS):c.3891C>T (p.Asp1297=) rs761463158 0.00001
NM_001291867.2(NHS):c.4223-12T>C rs993179609 0.00001
NM_001291867.2(NHS):c.4233G>A (p.Pro1411=) rs761909636 0.00001
NM_001291867.2(NHS):c.447C>G (p.Leu149=) rs1016293630 0.00001
NM_001291867.2(NHS):c.4627C>A (p.Pro1543Thr) rs774571482 0.00001
NM_001291867.2(NHS):c.4824T>C (p.Pro1608=) rs774728754 0.00001
NM_001291867.2(NHS):c.4929C>T (p.Asp1643=) rs1453770337 0.00001
NM_001291867.2(NHS):c.822G>A (p.Arg274=) rs1192420369 0.00001
NM_001291867.2(NHS):c.916-17T>C rs2519926930 0.00001
NM_001291867.2(NHS):c.1035C>T (p.Leu345=) rs936213903
NM_001291867.2(NHS):c.1108+12G>T
NM_001291867.2(NHS):c.1122C>T (p.Asp374=) rs2519931696
NM_001291867.2(NHS):c.1164G>A (p.Ser388=)
NM_001291867.2(NHS):c.117G>A (p.Gln39=)
NM_001291867.2(NHS):c.1190GGA[2] (p.Arg399del) rs760195058
NM_001291867.2(NHS):c.120G>T (p.Pro40=) rs1207460750
NM_001291867.2(NHS):c.1527G>A (p.Arg509=) rs1368708940
NM_001291867.2(NHS):c.165G>A (p.Glu55=) rs1178401029
NM_001291867.2(NHS):c.1674G>A (p.Gln558=) rs1342556504
NM_001291867.2(NHS):c.1737G>A (p.Arg579=)
NM_001291867.2(NHS):c.1805C>T (p.Thr602Met)
NM_001291867.2(NHS):c.183C>T (p.Val61=) rs2519619617
NM_001291867.2(NHS):c.1857C>T (p.Ser619=)
NM_001291867.2(NHS):c.1928C>T (p.Ser643Leu) rs2519935536
NM_001291867.2(NHS):c.1935C>T (p.Thr645=)
NM_001291867.2(NHS):c.206C>G (p.Pro69Arg) rs2064343947
NM_001291867.2(NHS):c.2141ACA[1] (p.Asn715del) rs1300557780
NM_001291867.2(NHS):c.2163T>C (p.Ser721=)
NM_001291867.2(NHS):c.2179C>T (p.His727Tyr)
NM_001291867.2(NHS):c.2322C>T (p.Ser774=) rs1043928584
NM_001291867.2(NHS):c.237C>T (p.Asp79=)
NM_001291867.2(NHS):c.2409C>T (p.His803=) rs2519937071
NM_001291867.2(NHS):c.267C>T (p.Ser89=) rs1451780266
NM_001291867.2(NHS):c.2691G>A (p.Thr897=)
NM_001291867.2(NHS):c.2963C>G (p.Thr988Arg) rs2066450938
NM_001291867.2(NHS):c.309G>T (p.Ala103=) rs2064344909
NM_001291867.2(NHS):c.310_342del (p.Pro104_Ala114del) rs1384020343
NM_001291867.2(NHS):c.3257C>T (p.Pro1086Leu)
NM_001291867.2(NHS):c.3297C>T (p.Asn1099=) rs752199066
NM_001291867.2(NHS):c.333GGC[7] (p.Ala117dup) rs587780401
NM_001291867.2(NHS):c.339G>T (p.Ala113=) rs1364463762
NM_001291867.2(NHS):c.3408G>C (p.Thr1136=) rs370811549
NM_001291867.2(NHS):c.3456T>C (p.Val1152=) rs2066456686
NM_001291867.2(NHS):c.3684C>T (p.Arg1228=)
NM_001291867.2(NHS):c.3792C>A (p.Thr1264=) rs1439819880
NM_001291867.2(NHS):c.3933G>C (p.Leu1311=) rs2519941873
NM_001291867.2(NHS):c.3993T>G (p.Thr1331=) rs941737702
NM_001291867.2(NHS):c.408C>T (p.Leu136=) rs1555981412
NM_001291867.2(NHS):c.4110T>C (p.Pro1370=) rs2519942529
NM_001291867.2(NHS):c.4223-7T>C
NM_001291867.2(NHS):c.4464C>T (p.Ser1488=) rs1461450048
NM_001291867.2(NHS):c.4542T>C (p.Asn1514=)
NM_001291867.2(NHS):c.4713G>A (p.Glu1571=)
NM_001291867.2(NHS):c.4791A>G (p.Ala1597=)
NM_001291867.2(NHS):c.519C>T (p.Gly173=) rs2064346850
NM_001291867.2(NHS):c.566-13_566-12insA rs775351254
NM_001291867.2(NHS):c.566-18_566-17del
NM_001291867.2(NHS):c.567C>T (p.Pro189=) rs972522687
NM_001291867.2(NHS):c.597G>C (p.Leu199=) rs1329366462
NM_001291867.2(NHS):c.735C>T (p.Ser245=)
NM_001291867.2(NHS):c.765C>A (p.Pro255=)
NM_001291867.2(NHS):c.81G>C (p.Ala27=) rs1410012475

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