ClinVar Miner

List of variants in gene NHS reported by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001291867.2(NHS):c.4018T>C (p.Phe1340Leu) rs3747295 0.29823
NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser) rs150688899 0.06491
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser) rs398124605 0.03116
NM_001291867.2(NHS):c.2831A>T (p.His944Leu) rs149244552 0.00386
NM_001291867.2(NHS):c.3545C>T (p.Pro1182Leu) rs145977627 0.00189
NM_001291867.2(NHS):c.2593G>A (p.Ala865Thr) rs149609550 0.00131
NM_001291867.2(NHS):c.828G>A (p.Glu276=) rs147497359 0.00096
NM_001291867.2(NHS):c.2330T>C (p.Phe777Ser) rs143081492 0.00089
NM_001291867.2(NHS):c.4832G>C (p.Ser1611Thr) rs140651691 0.00086
NM_001291867.2(NHS):c.765C>G (p.Pro255=) rs143119491 0.00086
NM_001291867.2(NHS):c.3929G>T (p.Gly1310Val) rs41304731 0.00074
NM_001291867.2(NHS):c.1965T>G (p.Pro655=) rs151009077 0.00069
NM_001291867.2(NHS):c.4666T>A (p.Ser1556Thr) rs2071848 0.00055
NM_001291867.2(NHS):c.666C>T (p.Cys222=) rs138104885 0.00055
NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu) rs145005596 0.00053
NM_001291867.2(NHS):c.1596G>A (p.Glu532=) rs146437542 0.00044
NM_001291867.2(NHS):c.1603G>A (p.Val535Met) rs367856134 0.00028
NM_001291867.2(NHS):c.513C>T (p.Leu171=) rs398124610 0.00028
NM_001291867.2(NHS):c.3310C>T (p.His1104Tyr) rs201263814 0.00016
NM_001291867.2(NHS):c.1143C>T (p.Cys381=) rs727504042 0.00012
NM_001291867.2(NHS):c.3408G>A (p.Thr1136=) rs370811549 0.00009
NM_001291867.2(NHS):c.1175G>A (p.Arg392Gln) rs372969054 0.00007
NM_001291867.2(NHS):c.1327G>A (p.Gly443Arg) rs371229391 0.00006
NM_001291867.2(NHS):c.152C>T (p.Ala51Val) rs727504039 0.00005
NM_001291867.2(NHS):c.3515C>T (p.Thr1172Met) rs149099378 0.00005
NM_001291867.2(NHS):c.618G>A (p.Pro206=) rs200952266 0.00005
NM_001291867.2(NHS):c.827A>G (p.Glu276Gly) rs886042656 0.00005
NM_001291867.2(NHS):c.4860G>C (p.Arg1620=) rs761212213 0.00003
NM_001291867.2(NHS):c.1155T>C (p.His385=) rs727504043 0.00002
NM_001291867.2(NHS):c.1998G>A (p.Glu666=) rs1278511688 0.00002
NM_001291867.2(NHS):c.2234C>T (p.Ala745Val) rs139037690 0.00002
NM_001291867.2(NHS):c.2348G>A (p.Gly783Glu) rs398124606 0.00002
NM_001291867.2(NHS):c.2921T>C (p.Val974Ala) rs747843383 0.00001
NM_001291867.2(NHS):c.3891C>T (p.Asp1297=) rs761463158 0.00001
NM_001291867.2(NHS):c.49C>T (p.Arg17Trp) rs794726963 0.00001
NM_001291867.2(NHS):c.660A>C (p.Pro220=) rs794727314 0.00001
NM_001291867.2(NHS):c.1016G>A (p.Trp339Ter) rs398124611
NM_001291867.2(NHS):c.1108G>A (p.Gly370Arg) rs727504041
NM_001291867.2(NHS):c.1180C>T (p.Arg394Ter) rs132630322
NM_001291867.2(NHS):c.147C>T (p.Val49=) rs794726961
NM_001291867.2(NHS):c.207GCC[3] (p.Pro73del) rs10590816
NM_001291867.2(NHS):c.2633del (p.Gly878fs) rs727504044
NM_001291867.2(NHS):c.302_337dup (p.Glu101_Ala112dup) rs398124607
NM_001291867.2(NHS):c.400del (p.Arg134fs) rs398124608
NM_001291867.2(NHS):c.401G>A (p.Arg134His) rs794726962
NM_001291867.2(NHS):c.4428_4430dup (p.Ser1480dup) rs398124609
NM_001291867.2(NHS):c.4783A>C (p.Thr1595Pro) rs794727936
NM_001291867.2(NHS):c.565+1G>T rs727504040
NM_001291867.2(NHS):c.565+7A>C rs794726960
NM_001291867.2(NHS):c.566-10dup rs5901624

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