ClinVar Miner

List of variants in gene IMPDH1 reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr) rs72624961 0.00179
NM_000883.4(IMPDH1):c.336C>T (p.Ala112=) rs547740249 0.00081
NM_000883.4(IMPDH1):c.1173A>G (p.Thr391=) rs138502867 0.00075
NM_000883.4(IMPDH1):c.1405+9A>G rs11562030 0.00050
NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln) rs150628823 0.00025
NM_000883.4(IMPDH1):c.624C>G (p.Pro208=) rs758909916 0.00024
NM_000883.4(IMPDH1):c.1386G>A (p.Leu462=) rs144587211 0.00014
NM_000883.4(IMPDH1):c.1551C>T (p.Ser517=) rs148875137 0.00010
NM_000883.4(IMPDH1):c.1623C>T (p.Phe541=) rs749416988 0.00004
NM_000883.4(IMPDH1):c.1789C>T (p.Arg597Trp) rs530357590 0.00004
NM_000883.4(IMPDH1):c.159C>T (p.Asp53=) rs768265149 0.00001
NM_000883.4(IMPDH1):c.1778+1G>A rs772619634 0.00001
NM_000883.4(IMPDH1):c.335C>A (p.Ala112Asp) rs1318719055 0.00001
NM_000883.4(IMPDH1):c.681C>A (p.Ile227=) rs886042980 0.00001
NM_000883.4(IMPDH1):c.1074+6_1074+7delinsTT rs797044629
NM_000883.4(IMPDH1):c.1362C>A (p.Thr454=) rs62481098
NM_000883.4(IMPDH1):c.1457TCT[1] (p.Phe487del) rs564828105

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