ClinVar Miner

List of variants in gene VPS37A reported by Genome Diagnostics Laboratory, The Hospital for Sick Children

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_152415.3(VPS37A):c.616A>T (p.Ile206Phe) rs17502618 0.00682
NM_152415.3(VPS37A):c.24C>T (p.Thr8=) rs146098391 0.00409
NM_152415.3(VPS37A):c.637A>G (p.Ile213Val) rs17687375 0.00252
NM_152415.3(VPS37A):c.125+8G>A rs145945235 0.00156
NM_152415.3(VPS37A):c.1176A>G (p.Gln392=) rs117336150 0.00065
NM_152415.3(VPS37A):c.418C>T (p.Leu140=) rs143689645 0.00021
NM_152415.3(VPS37A):c.929C>T (p.Thr310Ile) rs146110170 0.00009
NM_152415.3(VPS37A):c.398C>G (p.Thr133Ser) rs757735101 0.00002
NM_152415.3(VPS37A):c.812A>G (p.Asp271Gly) rs768941323 0.00002
NM_152415.3(VPS37A):c.539C>G (p.Ser180Cys) rs778062997 0.00001
NM_152415.3(VPS37A):c.556C>A (p.His186Asn) rs774817335 0.00001
NM_152415.3(VPS37A):c.642+10G>A rs531893337 0.00001
NM_152415.3(VPS37A):c.648C>A (p.Ser216Arg) rs201069468 0.00001
NM_152415.3(VPS37A):c.853C>G (p.Leu285Val) rs771451141 0.00001
NM_152415.3(VPS37A):c.928A>G (p.Thr310Ala) rs773070587 0.00001
NM_152415.3(VPS37A):c.96G>T (p.Leu32=) rs199577037

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