ClinVar Miner

List of variants studied for congenital contractures of the limbs and face, hypotonia, and developmental delay

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_052867.4(NALCN):c.3570T>C (p.Leu1190=) rs686141 0.74451
NM_052867.4(NALCN):c.800-35G>A rs570252 0.54204
NM_052867.4(NALCN):c.2118+9T>C rs661585 0.50096
NM_052867.4(NALCN):c.3714C>T (p.Thr1238=) rs17677552 0.28902
NM_052867.4(NALCN):c.2637-10T>G rs16958350 0.02553
NM_052867.4(NALCN):c.2192+5C>T rs41281140 0.00972
NM_052867.4(NALCN):c.2859C>T (p.Phe953=) rs34033086 0.00816
NM_052867.4(NALCN):c.2241C>T (p.Pro747=) rs79264337 0.00512
NM_052867.4(NALCN):c.3735A>G (p.Ser1245=) rs111383689 0.00300
NM_052867.4(NALCN):c.3272C>A (p.Ala1091Glu) rs147053581 0.00062
NM_052867.4(NALCN):c.2307T>G (p.His769Gln) rs147070169 0.00016
NM_052867.4(NALCN):c.4961G>A (p.Arg1654Gln) rs199629052 0.00008
NM_052867.4(NALCN):c.3845C>T (p.Ser1282Leu) rs763353781 0.00002
NM_052867.4(NALCN):c.1764+1G>A rs1290866655 0.00001
NM_052867.4(NALCN):c.2887C>G (p.Leu963Val) rs890818947 0.00001
NM_052867.4(NALCN):c.2943A>T (p.Gly981=) rs1436436193 0.00001
NM_052867.4(NALCN):c.3587A>C (p.Asn1196Thr) rs781040583 0.00001
NM_052867.4(NALCN):c.5138G>A (p.Gly1713Asp) rs2031085413 0.00001
NM_052867.4(NALCN):c.1135-10G>A rs114020374
NM_052867.4(NALCN):c.1526T>C (p.Leu509Ser) rs786203987
NM_052867.4(NALCN):c.152T>A (p.Ile51Asn)
NM_052867.4(NALCN):c.1534T>G (p.Phe512Val) rs878853132
NM_052867.4(NALCN):c.1538C>A (p.Thr513Asn) rs878853131
NM_052867.4(NALCN):c.1571G>A (p.Ser524Asn) rs1566460907
NM_052867.4(NALCN):c.1593C>T (p.Val531=) rs3916906
NM_052867.4(NALCN):c.1639A>G (p.Met547Val) rs1057519432
NM_052867.4(NALCN):c.1658A>G (p.Gln553Arg) rs2140005086
NM_052867.4(NALCN):c.1675G>C (p.Val559Leu) rs758646676
NM_052867.4(NALCN):c.1733A>C (p.Tyr578Ser) rs786203988
NM_052867.4(NALCN):c.1733A>G (p.Tyr578Cys) rs786203988
NM_052867.4(NALCN):c.1768C>T (p.Leu590Phe) rs786203986
NM_052867.4(NALCN):c.1789G>A (p.Val597Ile) rs2139938691
NM_052867.4(NALCN):c.1799A>G (p.Asp600Gly) rs1594368726
NM_052867.4(NALCN):c.1800C>A (p.Asp600Glu) rs1566385468
NM_052867.4(NALCN):c.1838A>G (p.Gln613Arg) rs2139938444
NM_052867.4(NALCN):c.1894C>T (p.Arg632Ter) rs541633673
NM_052867.4(NALCN):c.217A>T (p.Thr73Ser) rs2047255885
NM_052867.4(NALCN):c.2374A>G (p.Thr792Ala)
NM_052867.4(NALCN):c.2435dup (p.Glu813fs) rs1594218864
NM_052867.4(NALCN):c.257T>A (p.Met86Lys) rs999891200
NM_052867.4(NALCN):c.2786T>C (p.Met929Thr) rs2034987913
NM_052867.4(NALCN):c.3017T>C (p.Val1006Ala) rs878853130
NM_052867.4(NALCN):c.3050T>C (p.Ile1017Thr) rs878853129
NM_052867.4(NALCN):c.3050T>G (p.Ile1017Ser)
NM_052867.4(NALCN):c.3064A>G (p.Ile1022Val) rs1555381108
NM_052867.4(NALCN):c.3162+3A>G rs2034767716
NM_052867.4(NALCN):c.3209A>G (p.Asn1070Ser) rs1277065548
NM_052867.4(NALCN):c.3238A>G (p.Lys1080Glu) rs950773096
NM_052867.4(NALCN):c.3345A>C (p.Lys1115Asn)
NM_052867.4(NALCN):c.3346G>T (p.Gly1116Cys) rs2034130538
NM_052867.4(NALCN):c.3448C>A (p.Leu1150Ile) rs1555378616
NM_052867.4(NALCN):c.3493A>C (p.Thr1165Pro) rs878853128
NM_052867.4(NALCN):c.3522A>T (p.Arg1174Ser) rs2033787523
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) rs786201003
NM_052867.4(NALCN):c.3553G>A (p.Ala1185Thr) rs2139519168
NM_052867.4(NALCN):c.3604A>C (p.Lys1202Gln)
NM_052867.4(NALCN):c.3703del (p.Asp1235fs)
NM_052867.4(NALCN):c.3731T>G (p.Met1244Arg) rs2139514134
NM_052867.4(NALCN):c.3764A>G (p.Glu1255Gly) rs2139513972
NM_052867.4(NALCN):c.3955-50CT[11] rs34229756
NM_052867.4(NALCN):c.4104-19dup rs113354194
NM_052867.4(NALCN):c.4327G>A (p.Val1443Ile)
NM_052867.4(NALCN):c.4338T>G (p.Ile1446Met) rs878853127
NM_052867.4(NALCN):c.4498A>T (p.Arg1500Trp) rs2139425532
NM_052867.4(NALCN):c.454C>T (p.Arg152Ter) rs774096141
NM_052867.4(NALCN):c.4755+1G>T rs1158141270
NM_052867.4(NALCN):c.500T>A (p.Ile167Asn) rs2139420897
NM_052867.4(NALCN):c.5164C>G (p.Arg1722Gly)
NM_052867.4(NALCN):c.5188G>A (p.Glu1730Lys) rs1566761140
NM_052867.4(NALCN):c.518G>A (p.Arg173Gln)
NM_052867.4(NALCN):c.5209G>C (p.Asp1737His) rs757937802
NM_052867.4(NALCN):c.530A>C (p.Gln177Pro) rs786203984
NM_052867.4(NALCN):c.883del (p.Arg295fs) rs2043584001
NM_052867.4(NALCN):c.928G>A (p.Ala310Thr)
NM_052867.4(NALCN):c.934C>A (p.Leu312Ile) rs878853134
NM_052867.4(NALCN):c.938T>G (p.Val313Gly) rs786203985
NM_052867.4(NALCN):c.965T>C (p.Ile322Thr) rs1057519433
NM_052867.4(NALCN):c.979G>A (p.Glu327Lys) rs878853133
NM_052867.4(NALCN):c.985A>G (p.Arg329Gly) rs1057516040

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