ClinVar Miner

List of variants studied for Singleton-Merten syndrome 2

Included ClinVar conditions (1):
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_014314.4(RIGI):c.2400A>C (p.Val800=) rs3205166 0.34612
NM_014314.4(RIGI):c.1740T>A (p.Asp580Glu) rs17217280 0.10366
NM_014314.4(RIGI):c.2337+11G>A rs45589431 0.10215
NM_014314.4(RIGI):c.734A>G (p.Asn245Ser) rs141808660 0.00693
NM_014314.4(RIGI):c.1737C>T (p.Phe579=) rs116612738 0.00517
NM_014314.4(RIGI):c.1059C>T (p.Asn353=) rs45471397 0.00207
NM_014314.4(RIGI):c.2728G>T (p.Asp910Tyr) rs377348789 0.00011
NM_014314.4(RIGI):c.1232C>T (p.Ser411Leu) rs267602206 0.00001
NM_014314.4(RIGI):c.1118A>C (p.Glu373Ala) rs786204847
NM_014314.4(RIGI):c.1376-21dup rs71302893
NM_014314.4(RIGI):c.1481-21dup rs71504272
NM_014314.4(RIGI):c.1529A>T (p.Glu510Val) rs1587586052
NM_014314.4(RIGI):c.1863G>T (p.Glu621Asp) rs145874548
NM_014314.4(RIGI):c.2368A>C (p.Ile790Leu) rs771103623
NM_014314.4(RIGI):c.396_399del (p.Asn133fs) rs760088776
NM_014314.4(RIGI):c.803G>T (p.Cys268Phe) rs786204848
NM_014314.4(RIGI):c.816dup (p.Val273fs) rs781124785
NM_014314.4(RIGI):c.877G>C (p.Val293Leu)

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