ClinVar Miner

List of variants reported as benign for H syndrome

Included ClinVar conditions (1):
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_018344.6(SLC29A3):c.383+8A>G rs2243540 0.87959
NM_018344.6(SLC29A3):c.976A>G (p.Ile326Val) rs2487068 0.87306
NM_018344.6(SLC29A3):c.714T>C (p.Thr238=) rs2252997 0.87276
NM_018344.6(SLC29A3):c.715G>A (p.Val239Ile) rs2252996 0.84751
NM_018344.6(SLC29A3):c.1008T>C (p.Gly336=) rs1084004 0.84205
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe) rs780668 0.61569
NM_018344.6(SLC29A3):c.52A>G (p.Arg18Gly) rs2277257 0.47837
NM_018344.5(SLC29A3):c.-63C>T rs72542481 0.17617
NM_018344.6(SLC29A3):c.*103G>T rs780680 0.09364
NM_018344.6(SLC29A3):c.597G>A (p.Gln199=) rs16928737 0.03555
NM_018344.6(SLC29A3):c.842T>C (p.Leu281Pro) rs79737301 0.01835
NM_018344.6(SLC29A3):c.831C>T (p.Pro277=) rs61737431 0.01828
NM_018344.6(SLC29A3):c.*174G>A rs115839185 0.01772
NM_018344.6(SLC29A3):c.304T>C (p.Tyr102His) rs77339410 0.01738
NM_018344.6(SLC29A3):c.300+3A>G rs7083031 0.01144
NM_018344.6(SLC29A3):c.*124C>T rs117406077 0.00613
NM_018344.6(SLC29A3):c.*705G>A rs113080025 0.00529
NM_018344.6(SLC29A3):c.488G>T (p.Gly163Val) rs143557881 0.00485
NM_018344.6(SLC29A3):c.618C>T (p.Ala206=) rs141413620 0.00398
NM_018344.6(SLC29A3):c.2-17C>T rs80223748 0.00381
NM_018344.6(SLC29A3):c.1137C>T (p.Leu379=) rs115006556 0.00287
NM_018344.6(SLC29A3):c.1001A>G (p.Asn334Ser) rs144665176 0.00255
NM_018344.6(SLC29A3):c.1146C>T (p.Phe382=) rs148092033 0.00239
NM_018344.6(SLC29A3):c.383+6C>T rs77626641 0.00190
NM_018344.6(SLC29A3):c.687C>T (p.Ser229=) rs113542201 0.00142
NM_018344.6(SLC29A3):c.*429C>T rs140867523 0.00118
NM_018344.6(SLC29A3):c.-7C>T rs538463874 0.00038
NM_018344.6(SLC29A3):c.640G>A (p.Val214Met) rs200339271 0.00019
NM_018344.6(SLC29A3):c.774-6C>T rs185479915 0.00011
NM_018344.6(SLC29A3):c.334A>G (p.Thr112Ala) rs374212391 0.00002
NM_018344.6(SLC29A3):c.465G>A (p.Val155=) rs746005698 0.00001
NM_018344.6(SLC29A3):c.717C>T (p.Val239=) rs765482832 0.00001
NM_018344.6(SLC29A3):c.498G>C (p.Ala166=) rs150879861
NM_018344.6(SLC29A3):c.714_715inv (p.Val239Ile)

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