ClinVar Miner

List of variants reported as benign for Spondylometaphyseal dysplasia - Sutcliffe type

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_212482.4(FN1):c.2449A>C (p.Thr817Pro) rs2577301 0.99992
NM_212482.4(FN1):c.6781G>A (p.Val2261Ile) rs1250209 0.99990
NM_212482.4(FN1):c.5622+21A>G rs1250204 0.93677
NM_212482.4(FN1):c.4725G>A (p.Glu1575=) rs13652 0.86443
NM_212482.4(FN1):c.44A>T (p.Gln15Leu) rs1250259 0.79353
NM_212482.4(FN1):c.4253-15C>G rs1250215 0.51390
NM_212482.4(FN1):c.3111A>C (p.Gly1037=) rs7589580 0.33213
NM_212482.4(FN1):c.3156A>C (p.Pro1052=) rs1053238 0.33203
NM_212482.4(FN1):c.3253+17G>A rs13306359 0.33118
NM_212482.4(FN1):c.149-4G>T rs2692234 0.29590
NM_212482.4(FN1):c.149-3C>T rs2577290 0.29543
NM_212482.4(FN1):c.2442T>A (p.Pro814=) rs7596677 0.28292
NM_212482.4(FN1):c.1819+7A>T rs3796123 0.27038
NM_212482.4(FN1):c.7161T>C (p.Tyr2387=) rs11651 0.25127
NM_212482.4(FN1):c.5691A>T (p.Gly1897=) rs1132741 0.22024
NM_212482.4(FN1):c.1675+21A>G rs17458018 0.04246
NM_212482.4(FN1):c.2518+12G>C rs7570208
NM_212482.4(FN1):c.4343-16C>T rs35343655

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