ClinVar Miner

List of variants reported as uncertain significance for chromosome 2P16.3 deletion syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_001330078.2(NRXN1):c.1700T>G (p.Leu567Trp) rs372311299
NM_001330078.2(NRXN1):c.1784G>A (p.Arg595His) rs761279630
NM_001330078.2(NRXN1):c.1978G>A (p.Ala660Thr) rs199939303
NM_001330078.2(NRXN1):c.2190G>T (p.Gln730His) rs199978276
NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn) rs80293130
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr) rs199784139
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) rs201818223
NM_001330078.2(NRXN1):c.262C>G (p.Arg88Gly) rs748684256
NM_001330078.2(NRXN1):c.270G>T (p.Gln90His) rs199960045
NM_001330078.2(NRXN1):c.302C>G (p.Ala101Gly) rs200184823
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser) rs199784029
NM_001330078.2(NRXN1):c.3365-109939C>T rs766942777
NM_001330078.2(NRXN1):c.3407C>T (p.Thr1136Met)
NM_001330078.2(NRXN1):c.3542A>G (p.His1181Arg) rs200915287
NM_001330078.2(NRXN1):c.4011G>C (p.Glu1337Asp) rs200935246
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser) rs200792504

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