ClinVar Miner

List of variants in gene NHS reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001291867.2(NHS):c.828G>A (p.Glu276=) rs147497359 0.00096
NM_001291867.2(NHS):c.4436G>A (p.Ser1479Asn) rs145200841 0.00056
NM_001291867.2(NHS):c.666C>T (p.Cys222=) rs138104885 0.00055
NM_001291867.2(NHS):c.1596G>A (p.Glu532=) rs146437542 0.00044
NM_001291867.2(NHS):c.1748G>A (p.Arg583His) rs143289369 0.00028
NM_001291867.2(NHS):c.513C>T (p.Leu171=) rs398124610 0.00028
NM_001291867.2(NHS):c.322G>A (p.Glu108Lys) rs773995388 0.00026
NM_001291867.2(NHS):c.4937C>T (p.Ser1646Phe) rs374462247 0.00020
NM_001291867.2(NHS):c.1143C>T (p.Cys381=) rs727504042 0.00012
NM_001291867.2(NHS):c.2905G>A (p.Ala969Thr) rs762685365 0.00009
NM_001291867.2(NHS):c.966G>A (p.Pro322=) rs745327335 0.00005
NM_001291867.2(NHS):c.2663T>C (p.Met888Thr) rs200321491 0.00004
NM_001291867.2(NHS):c.4646C>A (p.Pro1549His) rs1064797359 0.00002
NM_001291867.2(NHS):c.4297G>A (p.Val1433Met) rs1007858515 0.00001
NM_001291867.2(NHS):c.1068C>T (p.Ala356=)
NM_001291867.2(NHS):c.1108+4T>C
NM_001291867.2(NHS):c.1317T>C (p.Asn439=)
NM_001291867.2(NHS):c.1407T>G (p.Gly469=)
NM_001291867.2(NHS):c.1471G>A (p.Asp491Asn)
NM_001291867.2(NHS):c.1655C>T (p.Pro552Leu)
NM_001291867.2(NHS):c.1995G>A (p.Ser665=)
NM_001291867.2(NHS):c.302_337dup (p.Glu101_Ala112dup) rs398124607
NM_001291867.2(NHS):c.310_348del (p.Pro104_Ala116del)
NM_001291867.2(NHS):c.333GGC[7] (p.Ala117dup) rs587780401
NM_001291867.2(NHS):c.4049A>G (p.His1350Arg)
NM_001291867.2(NHS):c.4151C>G (p.Ser1384Ter) rs2066464113
NM_001291867.2(NHS):c.4196G>A (p.Gly1399Glu) rs2066464724
NM_001291867.2(NHS):c.4455T>G (p.Thr1485=)
NM_001291867.2(NHS):c.4493G>A (p.Arg1498Lys)
NM_001291867.2(NHS):c.452A>G (p.Gln151Arg) rs2064346316
NM_001291867.2(NHS):c.4581C>T (p.Arg1527=)
NM_001291867.2(NHS):c.4679C>T (p.Thr1560Ile) rs1601862652
NM_001291867.2(NHS):c.4749T>G (p.Val1583=) rs2147148818
NM_001291867.2(NHS):c.526C>G (p.Arg176Gly)
NM_001291867.2(NHS):c.961A>C (p.Arg321=)

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