ClinVar Miner

List of variants in gene SHARPIN studied for not specified

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_030974.4(SHARPIN):c.880C>T (p.Pro294Ser) rs34674752 0.03102
NM_030974.4(SHARPIN):c.568G>C (p.Gly190Arg) rs200702253 0.00045
NM_030974.4(SHARPIN):c.961G>A (p.Gly321Arg) rs200344062 0.00015
NM_030974.4(SHARPIN):c.734A>G (p.His245Arg) rs369335155 0.00008
NM_030974.4(SHARPIN):c.806G>A (p.Arg269His) rs200777435 0.00005
NM_030974.4(SHARPIN):c.382A>G (p.Lys128Glu) rs201294290 0.00004
NM_030974.4(SHARPIN):c.693C>T (p.Ala231=) rs761738333 0.00004
NM_030974.4(SHARPIN):c.290G>C (p.Gly97Ala) rs896511512 0.00003
NM_030974.4(SHARPIN):c.492G>C (p.Arg164Ser) rs1024247966 0.00003
NM_030974.4(SHARPIN):c.541C>T (p.Arg181Trp) rs371756677 0.00003
NM_030974.4(SHARPIN):c.842G>A (p.Arg281His) rs1044092603 0.00003
NM_030974.4(SHARPIN):c.353G>T (p.Gly118Val) rs373735012 0.00002
NM_030974.4(SHARPIN):c.424G>A (p.Val142Ile) rs201622976 0.00002
NM_030974.4(SHARPIN):c.550G>C (p.Ala184Pro) rs368029645 0.00002
NM_030974.4(SHARPIN):c.1042C>T (p.Leu348Phe) rs752887435 0.00001
NM_030974.4(SHARPIN):c.1061G>A (p.Cys354Tyr) rs925928246 0.00001
NM_030974.4(SHARPIN):c.1097C>G (p.Pro366Arg) rs368001164 0.00001
NM_030974.4(SHARPIN):c.277C>T (p.Pro93Ser) rs773225447 0.00001
NM_030974.4(SHARPIN):c.422C>T (p.Pro141Leu) rs775548323 0.00001
NM_030974.4(SHARPIN):c.607G>A (p.Val203Met) rs375442263 0.00001
NM_030974.4(SHARPIN):c.1118C>T (p.Thr373Ile)
NM_030974.4(SHARPIN):c.1137G>C (p.Trp379Cys)
NM_030974.4(SHARPIN):c.309C>A (p.Phe103Leu)
NM_030974.4(SHARPIN):c.386G>A (p.Ser129Asn)
NM_030974.4(SHARPIN):c.414A>T (p.Glu138Asp)
NM_030974.4(SHARPIN):c.440C>G (p.Pro147Arg)
NM_030974.4(SHARPIN):c.484C>T (p.Leu162Phe) rs2537337209
NM_030974.4(SHARPIN):c.513G>C (p.Glu171Asp) rs1218430063
NM_030974.4(SHARPIN):c.542G>A (p.Arg181Gln) rs767943795
NM_030974.4(SHARPIN):c.550G>A (p.Ala184Thr) rs368029645
NM_030974.4(SHARPIN):c.577C>G (p.Gln193Glu) rs2537336748
NM_030974.4(SHARPIN):c.638G>C (p.Cys213Ser) rs2537336517
NM_030974.4(SHARPIN):c.643C>T (p.Pro215Ser) rs1836248006
NM_030974.4(SHARPIN):c.700G>A (p.Ala234Thr)
NM_030974.4(SHARPIN):c.704C>T (p.Ala235Val)
NM_030974.4(SHARPIN):c.743G>A (p.Cys248Tyr) rs1357431865
NM_030974.4(SHARPIN):c.784G>A (p.Gly262Ser)
NM_030974.4(SHARPIN):c.805C>T (p.Arg269Cys)
NM_030974.4(SHARPIN):c.862G>C (p.Val288Leu)
NM_030974.4(SHARPIN):c.866G>A (p.Arg289Gln)
NM_030974.4(SHARPIN):c.884C>G (p.Ala295Gly)
NM_030974.4(SHARPIN):c.889C>G (p.Leu297Val)
NM_030974.4(SHARPIN):c.916G>T (p.Ala306Ser) rs562533242
NM_030974.4(SHARPIN):c.945C>G (p.His315Gln) rs751554369
NM_030974.4(SHARPIN):c.973C>T (p.Arg325Cys)

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