ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 80
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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 0.00014
NM_001291867.2(NHS):c.1163C>T (p.Ser388Leu) rs150689121 0.00009
NM_001291867.2(NHS):c.2709C>T (p.Asn903=) rs771010114 0.00009
NM_001291867.2(NHS):c.2909C>T (p.Thr970Met) rs373464879 0.00008
NM_001291867.2(NHS):c.3786G>A (p.Thr1262=) rs150235442 0.00008
NM_001291867.2(NHS):c.1327G>A (p.Gly443Arg) rs371229391 0.00006
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.4083G>A (p.Ser1361=) rs142564431 0.00004
NM_001291867.2(NHS):c.4860G>C (p.Arg1620=) rs761212213 0.00003
NM_001291867.2(NHS):c.1469G>T (p.Gly490Val) rs775816596 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.2277T>C (p.Tyr759=) rs1323986389 0.00001
NM_001291867.2(NHS):c.3891C>T (p.Asp1297=) rs761463158 0.00001
NM_001291867.2(NHS):c.822G>A (p.Arg274=) rs1192420369 0.00001
NM_001291867.2(NHS):c.1035C>T (p.Leu345=)
NM_001291867.2(NHS):c.1041G>A (p.Thr347=)
NM_001291867.2(NHS):c.1109-18C>A
NM_001291867.2(NHS):c.1120G>A (p.Asp374Asn)
NM_001291867.2(NHS):c.1122C>T (p.Asp374=)
NM_001291867.2(NHS):c.1131T>A (p.Ala377=)
NM_001291867.2(NHS):c.1190GGA[2] (p.Arg399del)
NM_001291867.2(NHS):c.1203C>T (p.Thr401=)
NM_001291867.2(NHS):c.120G>T (p.Pro40=)
NM_001291867.2(NHS):c.1246G>C (p.Asp416His)
NM_001291867.2(NHS):c.1527G>A (p.Arg509=)
NM_001291867.2(NHS):c.1566C>T (p.Gly522=)
NM_001291867.2(NHS):c.1647A>G (p.Pro549=)
NM_001291867.2(NHS):c.165G>A (p.Glu55=)
NM_001291867.2(NHS):c.1674G>A (p.Gln558=)
NM_001291867.2(NHS):c.1824C>T (p.His608=)
NM_001291867.2(NHS):c.1835C>T (p.Thr612Met)
NM_001291867.2(NHS):c.183C>T (p.Val61=)
NM_001291867.2(NHS):c.190C>T (p.Pro64Ser)
NM_001291867.2(NHS):c.1928C>T (p.Ser643Leu)
NM_001291867.2(NHS):c.197G>C (p.Gly66Ala)
NM_001291867.2(NHS):c.206C>G (p.Pro69Arg)
NM_001291867.2(NHS):c.2141ACA[1] (p.Asn715del)
NM_001291867.2(NHS):c.2322C>T (p.Ser774=)
NM_001291867.2(NHS):c.267C>T (p.Ser89=)
NM_001291867.2(NHS):c.2690C>T (p.Thr897Met)
NM_001291867.2(NHS):c.2721C>T (p.Pro907=)
NM_001291867.2(NHS):c.2820C>T (p.Ala940=)
NM_001291867.2(NHS):c.2963C>G (p.Thr988Arg)
NM_001291867.2(NHS):c.309G>T (p.Ala103=)
NM_001291867.2(NHS):c.310_342del (p.Pro104_Ala114del)
NM_001291867.2(NHS):c.3297C>T (p.Asn1099=)
NM_001291867.2(NHS):c.3314G>A (p.Arg1105His)
NM_001291867.2(NHS):c.333GGC[7] (p.Ala117dup) rs587780401
NM_001291867.2(NHS):c.3351C>T (p.Asn1117=)
NM_001291867.2(NHS):c.3375G>A (p.Ser1125=)
NM_001291867.2(NHS):c.3387G>A (p.Pro1129=)
NM_001291867.2(NHS):c.339G>T (p.Ala113=) rs1364463762
NM_001291867.2(NHS):c.3407C>T (p.Thr1136Met)
NM_001291867.2(NHS):c.3408G>C (p.Thr1136=)
NM_001291867.2(NHS):c.3456T>C (p.Val1152=)
NM_001291867.2(NHS):c.366G>A (p.Leu122=)
NM_001291867.2(NHS):c.3792C>A (p.Thr1264=)
NM_001291867.2(NHS):c.3933G>C (p.Leu1311=)
NM_001291867.2(NHS):c.3993T>G (p.Thr1331=)
NM_001291867.2(NHS):c.408C>T (p.Leu136=) rs1555981412
NM_001291867.2(NHS):c.4110T>C (p.Pro1370=)
NM_001291867.2(NHS):c.4223-12T>C
NM_001291867.2(NHS):c.4233G>A (p.Pro1411=)
NM_001291867.2(NHS):c.4263T>C (p.Ser1421=)
NM_001291867.2(NHS):c.4464C>T (p.Ser1488=)
NM_001291867.2(NHS):c.447C>G (p.Leu149=)
NM_001291867.2(NHS):c.4627C>A (p.Pro1543Thr)
NM_001291867.2(NHS):c.4824T>C (p.Pro1608=)
NM_001291867.2(NHS):c.4929C>T (p.Asp1643=)
NM_001291867.2(NHS):c.566-13_566-12insA
NM_001291867.2(NHS):c.567C>T (p.Pro189=)
NM_001291867.2(NHS):c.597G>C (p.Leu199=)
NM_001291867.2(NHS):c.610C>T (p.Arg204Cys)
NM_001291867.2(NHS):c.718+13G>A
NM_001291867.2(NHS):c.81G>C (p.Ala27=)
NM_001291867.2(NHS):c.839G>A (p.Arg280His)
NM_001291867.2(NHS):c.916-17T>C

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