ClinVar Miner

List of variants reported as uncertain significance for congenital contractures of the limbs and face, hypotonia, and developmental delay

Included ClinVar conditions (2):
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_052867.4(NALCN):c.3272C>A (p.Ala1091Glu) rs147053581 0.00062
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.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.152T>A (p.Ile51Asn)
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.217A>T (p.Thr73Ser) rs2047255885
NM_052867.4(NALCN):c.2374A>G (p.Thr792Ala)
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.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.3604A>C (p.Lys1202Gln)
NM_052867.4(NALCN):c.3764A>G (p.Glu1255Gly) rs2139513972
NM_052867.4(NALCN):c.4498A>T (p.Arg1500Trp) rs2139425532
NM_052867.4(NALCN):c.5164C>G (p.Arg1722Gly)
NM_052867.4(NALCN):c.5188G>A (p.Glu1730Lys) rs1566761140
NM_052867.4(NALCN):c.5209G>C (p.Asp1737His) rs757937802

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