ClinVar Miner

List of variants studied for Smith-Magenis syndrome by Baylor Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg) rs370633684 0.00026
NM_030665.4(RAI1):c.3883C>T (p.Pro1295Ser) rs372337877 0.00009
NM_030665.4(RAI1):c.4849C>T (p.Pro1617Ser) rs767535015 0.00004
GRCh37/hg19 17p11.2(chr17:16842991-20217316)
NM_030665.4(RAI1):c.2763_2764del (p.Glu923fs)
NM_030665.4(RAI1):c.2918C>G (p.Ala973Gly) rs2032220904
NM_030665.4(RAI1):c.424G>T (p.Asp142Tyr) rs2032095988
NM_030665.4(RAI1):c.4967C>G (p.Ser1656Cys) rs774532013

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