ClinVar Miner

List of variants reported as benign for Pierre Robin syndrome associated with a chromosomal anomaly by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_005992.1(TBX1):c.188_190CGC[6] (p.Pro67dup) rs1009463279
NM_080647.1(TBX1):c.-39C>T rs72646950
NM_080647.1(TBX1):c.1211C>G (p.Ala404Gly) rs557935727
NM_080647.1(TBX1):c.1215C>T (p.Pro405=) rs200135498
NM_080647.1(TBX1):c.1287C>T (p.Ala429=) rs574947516
NM_080647.1(TBX1):c.1353T>C (p.His451=) rs367711718
NM_080647.1(TBX1):c.1397C>T (p.Ala466Val) rs753613632
NM_080647.1(TBX1):c.297G>A (p.Ala99=) rs72646953
NM_080647.1(TBX1):c.309_311del rs369050575
NM_080647.1(TBX1):c.321G>A (p.Val107=) rs148928907
NM_080647.1(TBX1):c.444C>T (p.Phe148=) rs139776757
NM_080647.1(TBX1):c.492G>A (p.Pro164=) rs111754814
NM_080647.1(TBX1):c.63G>T (p.Leu21=) rs770754649
NM_080647.1(TBX1):c.678C>T (p.Asn226=) rs149453540
NM_080647.1(TBX1):c.813C>T (p.Thr271=) rs61730282
NM_080647.1(TBX1):c.927C>T (p.Pro309=) rs201607803
NM_080647.1(TBX1):c.928G>A (p.Gly310Ser) rs41298838

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