ClinVar Miner

List of variants in gene NALCN reported as pathogenic for congenital contractures of the limbs and face, hypotonia, and developmental delay

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_052867.4(NALCN):c.1526T>C (p.Leu509Ser) rs786203987
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.1639A>G (p.Met547Val) rs1057519432
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.1894C>T (p.Arg632Ter) rs541633673
NM_052867.4(NALCN):c.2435dup (p.Glu813fs) rs1594218864
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.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.3703del (p.Asp1235fs)
NM_052867.4(NALCN):c.4338T>G (p.Ile1446Met) rs878853127
NM_052867.4(NALCN):c.454C>T (p.Arg152Ter) rs774096141
NM_052867.4(NALCN):c.530A>C (p.Gln177Pro) rs786203984
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

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